| Frequency | Disease | Related Gene |
|---|
| 30 | NIDDM | GPD2 |
| NEUROD1, NIDDM |
| IRS1 |
| PPARG, PPARG1, PPARG2, CIMT1, GLM1 |
| IGF2BP2, IMP2 |
| WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL |
| NIDDM4 |
| CDKAL1 |
| HMGA1, HMGIY |
| ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2 |
| IL6, IFNB2, BSF2, HSF, HGF |
| GCK, HHF3 |
| PAX4, MODY9, KPD |
| SLC30A8, ZNT8 |
| TCF7L2, TCF4 |
| ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| MAPK8IP1, IB1 |
| HNF1A, TCF1, MODY3, IDDM20 |
| IPF1, MODY4 |
| IRS2 |
| LIPC, HL, LIPH, HDLCQ12 |
| SLC2A4, GLUT4 |
| HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 |
| GCGR |
| RETN, RSTN, FIZZ3 |
| AKT2, HIHGHH |
| HNF4A, TCF14, MODY1 |
| NIDDM3 |
| PTPN1, PTP1B |
| 26 | SCZD | MTHFR |
| SCZD12 |
| CHI3L1, GP39, YKL40, ASRT7 |
| DISC1, SCZD9 |
| DISC2 |
| SYN2 |
| DRD3, ETM1, FET1 |
| SCZD1 |
| SCZD3 |
| DTNBP1, HPS7 |
| SCZD5 |
| SCZD6 |
| SCZD11 |
| GPR48, LGR4 |
| SCZD2 |
| DAO, DAMOX |
| HTR2A |
| SCZD7 |
| DAOA, G72 |
| AKT1 |
| SCZD10 |
| SCZD8 |
| RTN4R, NOGOR |
| COMT |
| APOL2 |
| APOL4 |
| 21 | AML | GATA2, DCML, MONOMAC |
| GMPS |
| MLF1 |
| LPP |
| CHIC2, BTL |
| KIT, PBT |
| NSD1, ARA267, STO |
| NPM1 |
| WHSC1L1, NSD3 |
| JAK2 |
| NUP214, D9S46E, CAN, CAIN |
| AF10 |
| PICALM, CALM, CLTH, LAP |
| ARHGEF12, LARG, KIAA0382 |
| ETV6, TEL |
| FLT3 |
| AMLCR2 |
| CBFB, PEBP2B |
| SH3GL1, EEN |
| CEBPA, CEBP |
| RUNX1, CBFA2, AML1 |
| 21 | BREAST CANCER | RAD54L, HR54, HRAD54 |
| CASP8, MCH5, ALPS2B |
| BARD1 |
| PIK3CA |
| HMMR |
| NQO2, NMOR2 |
| RB1CC1, CC1, KIAA0203 |
| SLC22A1L, BWSCR1A, IMPT1 |
| ATM, ATA, AT1 |
| KRAS, KRAS2, RASK2, NS |
| BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| AKT1 |
| XRCC3, CMM6 |
| RAD51A, RECA |
| PALB2, FANCN, PNCA3 |
| CDH1, UVO, LCAM, ECAD |
| TP53, P53, LFS1 |
| PHB |
| BRIP1, BACH1, FANCJ |
| PPM1D, WIP1 |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 20 | PROSTATE CANCER | RNASEL, RNS4, PRCA1, HPC1 |
| PCAP |
| HPC5 |
| MAD1L1, TXBP181 |
| HPC4 |
| HIP1 |
| MSR1, SCARA1, SRA |
| KLF6, COPEB, BCD1, ZF9 |
| PTEN, MMAC1, GLM2 |
| MXI1 |
| CD82, SAR2, KAI1, ST6 |
| BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| CDH1, UVO, LCAM, ECAD |
| ZFHX3, ATBF1 |
| ELAC2, HPC2 |
| HPCQTL19 |
| HPC3 |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| HPC6 |
| AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 |
| 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 |
| 19 | CRC | PLA2G2A, PLA2B, PLA2L, MOM1 |
| BCL10 |
| NRAS, ALPS4, NS6 |
| ODC1 |
| PIK3CA |
| TLR2, TIL4 |
| APC, GS, FPC, BTPS2 |
| PDGFRL, PDGRL, PRLTS |
| TLR4, ARMD10 |
| PTPRJ, DEP1 |
| CCND1, PRAD1, BCL1 |
| MLH3, HNPCC7 |
| AKT1 |
| BUB1B, BUBR1 |
| TP53, P53, LFS1 |
| FLCN, BHD |
| AXIN2 |
| AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK |
| EP300, RSTS2 |
| 17 | BBS | CCDC28B, MGC1203 |
| C2orf86, BBS15 |
| BBS5 |
| ARL6, BBS3, RP55 |
| BBS7 |
| BBS12, FLJ35630, C4orf24 |
| PTHB1, BBS9 |
| TMEM67, MKS3, JBTS6, NPHP11 |
| TRIM32, HT2A, LGMD2H, BBS11 |
| BBS1 |
| BBS10, C12orf58, FLJ23560 |
| CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
| TTC8, BBS8, RP51 |
| BBS4 |
| BBS2 |
| MKS1, MKS, BBS13 |
| MKKS, HMCS, KMS, MKS, BBS6 |
| 16 | OBESITY | SDC3, SYND3, SDCN |
| NR0B2, SHP |
| POMC |
| GHRL |
| PPARG, PPARG1, PPARG2, CIMT1, GLM1 |
| UCP1 |
| CART |
| ADRB2 |
| PPARGC1B, PGC1B, PERC |
| SIM1 |
| ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2 |
| ADRB3 |
| UCP3 |
| AGRP, ART, AGRT |
| PYY |
| MC4R |
| 16 | AD | APBB2, FE65L1 |
| HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| AD10 |
| NOS3 |
| PACIP1, PAXIP1L, PTIP |
| AD6 |
| PLAU, URK, QPD, BDPLT5 |
| SORL1, LR11, SORLA |
| A2M , A2MD |
| AD5 |
| BLMH, BMH |
| ACE, DCP1, ACE1, MVCD3 |
| MPO |
| AD9 |
| AD8 |
| APP, AAA, CVAP, AD1 |
| 15 | MITOCHONDRIAL COMPLEX I DEFICIENCY | NDUFS2 |
| NDUFS1 |
| NDUFAF3 |
| NDUFS6 |
| NDUFS4, AQDQ |
| NDUFAF2, NDUFA12L, MMTN, B17.2L |
| NDUFAF4, HRPAP20, C6orf66 |
| NDUFV1, UQOR1 |
| FOXRED1 |
| NUBPL, IND1 |
| NDUFAF1, CIA30, CGI65 |
| NDUFV2 |
| NDUFA11 |
| C20orf7 |
| NDUFA1, MWFE |
| 15 | LUNG CANCER | CASP8, MCH5, ALPS2B |
| DLEC1, DLC1 |
| RASSF1 |
| PIK3CA |
| IRF1, MAR |
| PRKN, PARK2, PDJ, LPRS2 |
| EGFR |
| BRAF, NS7 |
| MAP3K8, COT, EST, TPL2 |
| ERCC6, CKN2, COFS1, CSB, ARMD5 |
| SLC22A1L, BWSCR1A, IMPT1 |
| PPP2R1B |
| KRAS, KRAS2, RASK2, NS |
| ERBB2, NGL, NEU, HER2 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| 14 | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 | LRP8, APOER2, MCI1 |
| GCLM, GLCLR |
| TNFSF4, GP34, OX4OL |
| F13A1, F13A |
| LTA, TNFB |
| GCLC, GLCLC |
| ESR1, ESR |
| OLR1, LOX1 |
| F7 |
| PSMA6, PROS27, P27K |
| ITGB3, GP3A, GT, BDPLT2 |
| THBD, THRM, AHUS6 |
| MIAT, C22orf35 |
| LGALS2 |
| 14 | LS | BCS1L, FLNMS, GRACILE, BJS, PTD |
| NDUFA10 |
| SDHA, SDH1, SDHF, CMD1GG, PGL5 |
| NDUFS4, AQDQ |
| NDUFAF2, NDUFA12L, MMTN, B17.2L |
| NDUFA2 |
| DLD, LAD, PHE3 |
| C8orf38 |
| SURF1 |
| COX15 |
| NDUFS3 |
| NDUFS8 |
| FOXRED1 |
| NDUFS7, PSST |
| 13 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | IL10, CSIF, GVHDS |
| CXCR1, IL8RA |
| CX3CR1, GPR13, V28 |
| HLA-C, PSORS1 |
| 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 |
| 13 | ASTHMA, SUSCEPTIBILITY TO | HNMT |
| MUC7 |
| IL13, ALRH, BHR1 |
| SCGB3A2, UGRP1 |
| IL12B, NKSF2 |
| ADRB2 |
| HLA-G |
| TNF, TNFA |
| PLA2G7, PAFAH, PAFAD |
| ALOX5 |
| SCGB1A1, UGB, CC10, CCSP, SCGB1A1 |
| PHF11, NYREN34 |
| CCL11, SCYA11 |
| 12 | MALARIA, SUSCEPTIBILITY TO | FCGR2B, CD32 |
| DARC, FY, GPD, WBCQ1 |
| CR1, C3BR |
| GYPC, GE, GPC |
| CISH, BACTS2 |
| GYPA, MN, GPA |
| TNF, TNFA |
| CD36, CHDS7, BDPLT10 |
| TIRAP, BACTS1 |
| NOS2A, NOS2 |
| SLC4A1, AE1, EPB3 |
| ICAM1 |
| 11 | GASTRIC CANCER | MUTYH, MYH |
| IL1B |
| IL1RN, MVCD4, DIRA |
| CASP10, MCH4, ALPS2 |
| PIK3CA |
| IRF1, MAR |
| KLF6, COPEB, BCD1, ZF9 |
| FGFR2, BEK, CFD1, JWS |
| KRAS, KRAS2, RASK2, NS |
| CDH1, UVO, LCAM, ECAD |
| ERBB2, NGL, NEU, HER2 |
| 10 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | NRAMP1, NRAMP, SLC11A1 |
| SP110, IFI41, IFI75, VODI |
| CISH, BACTS2 |
| IRGM, LRG47, IFI1, IBD19 |
| IFNGR1 |
| TIRAP, BACTS1 |
| IFNG, IFG, IFI |
| CCL2, SCYA2, MCP1, MCAF |
| CD209, CDSIGN |
| MC3R, BMIQ9 |
| 10 | SLE | PTPN22, PEP, PTPN8, LYP |
| FCGR2B, CD32 |
| FCGR3A, CD16, IGFR3 |
| TNFSF6, APT1LG1, FASL |
| TREX1, AGS1, CRV, HERNS |
| SLEB3 |
| BANK1, FLJ20706, BANK |
| C4A, C4S, C4AD |
| SLEH1 |
| DNASE1, DNL1 |
| 8 | ZS | PEX10, NALD |
| PEX14 |
| PEX19, PXF, HK33, D1S2223E |
| PEX13, ZWS, NALD |
| PEX3 |
| PEX1, ZWS1 |
| PEX5, PXR1, PTS1R |
| PEX26 |
| 8 | RA | PADI4, PADI5, PAD |
| PTPN22, PEP, PTPN8, LYP |
| CD244, NAIL, NKR2B4, SLAMF4 |
| IL10, CSIF, GVHDS |
| SLC22A4, OCTN1 |
| HLA-DRB1, SS1 |
| NFKBIL1 |
| MHC2TA, C2TA |
| 8 | PHEOCHROMOCYTOMA | KIF1B, CMT2A, CMT2A1, NBLST1 |
| SDHB, SDH2, SDHIP, PGL4 |
| TMEM127 |
| VHL |
| GDNF, HSCR3 |
| RET, MEN2A, HSCR1 |
| SDHD, PGL1 |
| MAX |
| 8 | OSTEOPOROSIS | RIL |
| CALCR, CRT |
| COL1A2 |
| BMND8 |
| LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| VDR |
| COL1A1 |
| BMND7 |
| 8 | IGER | SELP, GRMP |
| SPINK5, LEKTI |
| HAVCR1, HAVCR |
| PLA2G7, PAFAH, PAFAD |
| MS4A2, FCER1B |
| PHF11, NYREN34 |
| IL4R, IL4RA |
| IL21R |
| 8 | HEPATOCELLULAR CARCINOMA | CASP8, MCH5, ALPS2B |
| CTNNB1 |
| PIK3CA |
| APC, GS, FPC, BTPS2 |
| MET, AUTS9 |
| PDGFRL, PDGRL, PRLTS |
| AXIN1, AXIN |
| TP53, P53, LFS1 |
| 7 | ARMD1 | HMCN1, FBLN6, FIBL6, ARMD1 |
| CFHR1, FHR1, HFL1, CFHL1 |
| CFHR3, FHR3, HLF4, CFHL3 |
| C2 |
| CFB, BF, GBG, AHUS4 |
| PLEKHA1, TAPP1 |
| APOE, AD2, LPG, LDLCQ5 |
| 7 | THYROID CARCINOMA, PAPILLARY | TRIM33, 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, ADOHR |
| 7 | HYPOGONADOTROPIC HYPOGONADISM | PROK2, PK2, BV8, KAL4 |
| TACR3, NK3R |
| FGFR1, FLT2, KAL2, OGD |
| CHD7, IS3, KAL5 |
| NELF |
| TAC3, NKNB |
| KISS1R, GPR54 |
| 7 | RCC1 | OGG1 |
| VHL |
| DIRC2, RCC4 |
| RNF139, TRC8, RCA1 |
| HNF1A, TCF1, MODY3, IDDM20 |
| FLCN, BHD |
| HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 |
| 7 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT | APOA2 |
| ITIH4, PK120, ITIHL1 |
| GHR |
| GSBS |
| EPHX2 |
| ABCA1, ABC1, HDLDT1, TGD |
| LDLR, FHC, FH, LDLCQ2 |
| 7 | ADHD | DRD5, DRD1B, DRD1L2 |
| SLC6A3, DAT1 |
| ADHD4 |
| ADHD3 |
| DRD4 |
| ADHD1 |
| ADHD2 |
| 6 | COENZYME Q10 DEFICIENCY | CABC1, COQ8, ADCK3, SCAR9, ARCA2 |
| COQ2 |
| PDSS2, DLP1, C6orf210 |
| APTX, AOA, AOA1 |
| PDSS1, TPT, COQ1 |
| COQ9, C16orf49 |
| 6 | IDD | COL9A2, EDM2, STL5 |
| COL11A1, STL2 |
| THBS2 |
| ASPN, PLAP1, OS3 |
| CILP |
| COL9A3, EDM3, IDD |
| 6 | IDDM | PTPN22, PEP, PTPN8, LYP |
| ITPR3 |
| IL6, IFNB2, BSF2, HSF, HGF |
| HNF1A, TCF1, MODY3, IDDM20 |
| OAS1, OIAS |
| FOXP3, IPEX, AIID, XPID, PIDX |
| 6 | AUTONOMIC CONTROL, CONGENITAL FAILURE OF | PMX2B, NBPHOX, PHOX2B, NBLST2 |
| GDNF, HSCR3 |
| RET, MEN2A, HSCR1 |
| BDNF |
| ASCL1, ASH1 |
| EDN3, WS4B, HSCR4 |
| 6 | OVARIAN CANCER | CTNNB1 |
| PIK3CA |
| PRKN, PARK2, PDJ, LPRS2 |
| OPCML |
| AKT1 |
| CDH1, UVO, LCAM, ECAD |
| 6 | ESOPHAGEAL CANCER | TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B |
| DLEC1, DLC1 |
| LZTS1, F37, FEZ1 |
| DEC1 |
| RNF6 |
| WWOX, FOR |
| 6 | ALCOHOL DEPENDENCE | GABRA2 |
| ADH1B, ADH2 |
| ADH1C, ADH3 |
| TAS2R16, T2R16 |
| RCBTB1, CLLD7, GLP |
| HTR2A |
| 5 | MDD | FKBP5, FKBP51 |
| TPH2, NTPH, ADHD7 |
| MDD1 |
| HTR2A |
| MDD2 |
| 5 | VWM | EIF2B3 |
| EIF2B4 |
| EIF2B5, LVWM, CACH, CLE |
| EIF2B1, EIF2BA |
| EIF2B2 |
| 5 | STROKE, ISCHEMIC | F5 |
| NOS3 |
| F2 |
| ALOX5AP, FLAP |
| PRKCH, PKCL, PRKCL |
| 5 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | LAMC2, LAMNB2, LAMB2T |
| LAMB3 |
| COL17A1, BPAG2 |
| ITGB4 |
| LAMA3, LOCS |
| 5 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL | STAT1, CANDF7 |
| IL12B, NKSF2 |
| IFNGR1 |
| IL12RB1 |
| IFNGR2, IFNGT1, IFGR2 |
| 5 | ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | PEX10, NALD |
| PEX13, ZWS, NALD |
| PEX1, ZWS1 |
| PEX5, PXR1, PTS1R |
| PEX26 |
| 5 | PULMONARY FIBROSIS, IDIOPATHIC | TERC, TRC3, TR, DKCA1 |
| TERT, TCS1, EST2, DKCA2, DKCB4 |
| SFTPA2, SPA2, COLEC5 |
| SFTPA1, SFTP1 |
| MUC5B |
| 5 | PCTT | CTRC, CLCR |
| SPINK1, PSTI, PCTT, TATI, TCP |
| CFTR, ABCC7, CF, MRP7 |
| PRSS1, TRY1 |
| PRSS2, TRY2 |
| 5 | BLADDER CANCER | FGFR3, ACH |
| TACC3 |
| HRAS |
| KRAS, KRAS2, RASK2, NS |
| RB1 |
| 4 | HEPATITIS C VIRUS, SUSCEPTIBILITY TO | PTPRC, CD45, LCA |
| CCR5, CMKBR5, CCCKR5, IDDM22 |
| IFNG, IFG, IFI |
| IL28B |
| 4 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | PTPRC, CD45, LCA |
| IL7R, IL7RA, CD127 |
| CD3D, T3D |
| CD3E |
| 4 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | MUSK |
| RAPSN, CMS1D, CMS1E |
| CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D |
| CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D |
| 4 | ENDOMETRIAL CANCER | MSH6, GTBP, HNPCC5 |
| PTEN, MMAC1, GLM2 |
| MLH3, HNPCC7 |
| CDH1, UVO, LCAM, ECAD |
| 4 | GIST | SDHB, SDH2, SDHIP, PGL4 |
| SDHC, PGL3 |
| KIT, PBT |
| PDGFRA |
| 4 | PNDM | GCK, HHF3 |
| INS, MODY10, IDDM2 |
| ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 4 | DA2B | TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 |
| TNNI2, AMCD2B, DA2B, FSSV |
| TNNT3, AMCD2B, DA2B, FSSV |
| MYH3 |
| 4 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE | MTHFR |
| MTR |
| MTRR |
| MTHFD, MTHFC |
| 4 | SCCMS | CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS |
| CHRND, ACHRD, SCCMS, CMS2A, FCCMS |
| CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D |
| CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D |
| 4 | MISMATCH REPAIR CANCER SYNDROME | MSH2, COCA1, FCC1, HNPCC1 |
| MSH6, GTBP, HNPCC5 |
| MLH1, COCA2, HNPCC2 |
| PMS2, PMSL2, HNPCC4 |
| 4 | TESTICULAR TUMORS | BCL10 |
| FGFR3, ACH |
| KIT, PBT |
| STK11, PJS, LKB1 |
| 4 | RTD | REN, HNFJ2 |
| AGT, SERPINA8 |
| AGTR1, AGTR1A, AT2R1 |
| ACE, DCP1, ACE1, MVCD3 |
| 4 | MAPLE SYRUP URINE DISEASE | DBT, BCATE2 |
| BCKDHB, E1B |
| DLD, LAD, PHE3 |
| BCKDHA, MSUD1 |
| 4 | CTHM | CFC1, CRYPTIC, HTX2, DTGA2 |
| NKX2-6, CSX2 |
| GDF1, DTGA3, DORV |
| TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 4 | BARE LYMPHOCYTE SYNDROME, TYPE II | RFX5 |
| RFXAP |
| MHC2TA, C2TA |
| RFXANK |
| 4 | CMH | CAV3, LGMD1C, LQT9 |
| SLC25A4, ANT1, T1, PEO3, PEO2 |
| MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD |
| MYLK2, MLCK |
| 4 | TOBACCO ADDICTION, SUSCEPTIBILITY TO | SLC6A3, DAT1 |
| GPR51, GABBR2 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| CHRNA4, ENFL1 |
| 4 | FTC | NRAS, ALPS4, NS6 |
| MINPP1, HIPER1 |
| PTEN, MMAC1, GLM2 |
| HRAS |
| 4 | THROMBOPHILIA | MTHFR |
| F13A1, F13A |
| HABP2, PHBP, HGFAL, FSAP |
| F2 |
| 4 | THROMBOCYTHEMIA, ESSENTIAL | MPL, TPOR, MPLV |
| THPO, MGDF, MPLLG, TPO |
| JAK2 |
| SH2B3, LNK |
| 4 | TETRALOGY OF FALLOT | NKX2E, CSX, CHNG5 |
| ZFPM2, FOG2, DIH3 |
| GDF1, DTGA3, DORV |
| JAG1, AGS, AHD |
| 4 | HYPEREKPLEXIA, HEREDITARY | GLRB |
| GLRA1, STHE |
| SLC6A5, GLYT2 |
| GPHN, GPH, KIAA1385, GEPH |
| 4 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | MPZ, CMT1B, CMTDI3, CHM, DSS |
| EGR2, KROX20 |
| PMP22, CMT1A, CMT1E, DSS |
| PRX, CMT4F |
| 4 | FUNDUS ALBIPUNCTATUS | RHO, RP4, OPN2, CSNBAD1 |
| PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2 |
| RDH5 |
| RLBP1 |
| 4 | BWS | NSD1, ARA267, STO |
| CDKN1C, KIP2, BWS |
| H19, D11S813E, ASM1, BWS, WT2 |
| KCNQ10T1, LIT1 |
| 4 | MS | PDCD1, SLEB2 |
| HLA-DQB1, CELIAC1 |
| HLA-DRB1, SS1 |
| CD24 |
| 4 | MITOCHONDRIAL COMPLEX III DEFICIENCY | BCS1L, FLNMS, GRACILE, BJS, PTD |
| UQCRQ, QPC |
| UQCRB, UQBP, QPC |
| TTC19 |
| 4 | COUMARIN RESISTANCE | CYP2C9 |
| VKORC1, VKOR, VKCFD2, FLJ00289 |
| CYP2A6, CYP2A3, CYP2A, P450C2A |
| F9, HEMB |
| 4 | CARDIOFACIOCUTANEOUS SYNDROME | BRAF, NS7 |
| KRAS, KRAS2, RASK2, NS |
| MAP2K1, PRKMK1, MKK1, MEK1 |
| MAP2K2, PRKMK2, MEK2, MKK2 |
| 4 | ALS1 | DCTN1, HMN7B |
| PRPH |
| SOD1, ALS1 |
| NEFH |
| 3 | | SF3B1, SF3B155, SAP155, MDS |
| GATA2, DCML, MONOMAC |
| ASXL1, KIAA0978, BOPS, MDS |
| 3 | | MSR1, SCARA1, SRA |
| CTHRC1 |
| ASCC1, p50 |
| 3 | | C1QA |
| C1QB |
| C1QC, C1QG |
| 3 | CHONDROSARCOMA, EXTRASKELETAL MYXOID | TFG |
| CSMF |
| TAF15, TAF2N, RBP56 |
| 3 | HEPATITIS B VIRUS, SUSCEPTIBILITY TO | IFNGR1 |
| CRFB4, IBD25 |
| IFNAR2 |
| 3 | APLASTIC ANEMIA | TERC, TRC3, TR, DKCA1 |
| TERT, TCS1, EST2, DKCA2, DKCB4 |
| 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 | JMML | ARHGAP26, GRAF |
| PTPN11, PTP2C, SHP2, NS1 |
| NF1, VRNF, WSS, NFNS |
| 3 | FHCA | EPHX1 |
| TJP2, ZO2 |
| BAAT |
| 3 | SMEI | SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 |
| SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP |
| GABRG2, GEFSP3, CAE2, ECA2 |
| 3 | MENINGIOMA, FAMILIAL | PTEN, MMAC1, GLM2 |
| NF2 |
| MN1, MGCR |
| 3 | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE | MMP1, CLG |
| SERPINA1, PI, AAT |
| HMOX1 |
| 3 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHB, SDH2, SDHIP, PGL4 |
| SDHC, PGL3 |
| SDHD, PGL1 |
| 3 | GCE | AMT, NKH, GCE |
| GLDC, HYGN1, GCSP, GCE, NKH |
| GCSH, NKH |
| 3 | BCC1 | PTCH2 |
| RASA1, GAP, CMAVM, PKWS |
| PTCH1, NBCCS, BCNS, HPE7 |
| 3 | LYMPHOMA, NON-HODGKIN, FAMILIAL | RAD54L, HR54, HRAD54 |
| CASP10, MCH4, ALPS2 |
| PRF1, HPLH2, FLH2 |
| 3 | BARE LYMPHOCYTE SYNDROME, TYPE I | TAP1, ABCB2, TAP1, RING4, PSF1 |
| TAP2, ABCB3, PSF2, RING11 |
| TAPBP, TPSN |
| 3 | PETERS ANOMALY | CYP1B1, GLC3A |
| PITX2, IDG2, RIEG1, RGS, IGDS2 |
| PAX6, AN2, MGDA |
| 3 | CATARACT, AUTOSOMAL DOMINANT | BFSP2, CP49, CP47 |
| PAX6, AN2, MGDA |
| MIP, AQP0 |
| 3 | OMENN SYNDROME | DCLRE1C, ARTEMIS, SCIDA |
| RAG1 |
| RAG2 |
| 3 | PHP1B | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| GNASAS, NESPAS |
| STX16, SYN16 |
| 3 | HEMANGIOMA, CAPILLARY INFANTILE | ANTXR1, TEM8, ATR |
| KDR |
| FLT4, VEGFR3, PCL, LMPH1A |
| 3 | PDB | PDB4 |
| SQSTM1, P62, PDB3 |
| TNFRSF11A, RANK, ODFR, OFE, OPTB7 |
| 3 | TTDP | ERCC3, XPB |
| GTF2H5, TTDA, TFB5, C6orf175 |
| ERCC2, EM9, XPD, COFS2 |
| 3 | EVA | KCNJ10, SESAME |
| FOXI1, FKHL10, FREAC6 |
| SLC26A4, PDS, DFNB4, EVA, TDH2B |
| 3 | HNSCC | TNFRSF10B, DR5, TRAILR2 |
| PTEN, MMAC1, GLM2 |
| ING1 |
| 3 | SCHIZENCEPHALY | SIX3, HPE2 |
| SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| EMX2 |
| 3 | RMS2 | PAX7, RMS2 |
| PAX3, WS1, HUP2, CDHS, WS3 |
| FOXO1A, FKHR |
| 3 | REFSUM DISEASE, INFANTILE FORM | PEX1, ZWS1 |
| PXMP3, PAF1, PMP35, PEX2 |
| PEX26 |
| 3 | PXE | ABCC6, ARA, ABC34, MLP1, PXE |
| XYLT1, XT1 |
| XYLT2, XT2 |
| 3 | PHA1 | SCNN1A, BESC2 |
| SCNN1B, BESC1 |
| SCNN1G, PHA1, BESC3 |
| 3 | OSTEOGENIC SARCOMA | RB1 |
| TP53, P53, LFS1 |
| CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 3 | CFTD | SEPN1, SELN, RSMD1, CFTD |
| TPM3, NEM1, CFTD |
| ACTA1, ASMA, NEM3, NEM1, CFTD1 |
| 3 | UCMD | COL6A3 |
| COL6A1, OPLL |
| COL6A2 |
| 3 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS |
| CHRND, ACHRD, SCCMS, CMS2A, FCCMS |
| CHRNG, ACHRG |
| 3 | MOLYBDENUM COFACTOR DEFICIENCY | MOCS2, MPTS |
| MOCS1, MOCOD |
| GPHN, GPH, KIAA1385, GEPH |
| 3 | IMINOGLYCINURIA | SLC6A20, XT3 |
| SLC6A19, HND |
| SLC36A2, PAT2 |
| 3 | NCIE1 | TGM1, ICR2, LI1 |
| ALOX12B |
| ALOXE3 |
| 3 | AHUS1 | CFHR1, FHR1, HFL1, CFHL1 |
| CFHR3, FHR3, HLF4, CFHL3 |
| HF1, CFH, HUS, ARMD4, AHUS1 |
| 3 | MADD | ETFDH, MADD |
| ETFA, GA2, MADD |
| ETFB, MADD |
| 3 | BSS | GP9 |
| GP1BA, BSS, BDPLT1, VWDP, BDPLT3 |
| GP1BB, BS, BDPLT1 |
| 3 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE | LAMC2, LAMNB2, LAMB2T |
| LAMB3 |
| LAMA3, LOCS |
| 3 | DFNB1A | GJB3, CX31, DFNA2B |
| GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| GJB6, CX30, DFNA3B, HED, ED2, DFNB1B |
| 3 | MITOCHONDRIAL COMPLEX IV DEFICIENCY | C2orf64, PET191 |
| FASTKD2, KIAA0971 |
| COX6B1 |
| 3 | COACH SYNDROME | CC2D2A, KIAA1345, MKS6 |
| TMEM67, MKS3, JBTS6, NPHP11 |
| RPGRIP1L, KIAA1005, JBTS7, MKS5 |
| 3 | HFTC | GALNT3, HHS, HFTC |
| FGF23, ADHR, HPDR2, PHPTC |
| KL, KLOTHO |
| 3 | WT1 | WT1, NPHS4 |
| BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| GPC3, SDYS, SGBS1 |
| 3 | NEURAL TUBE DEFECTS | VANGL1, STBM2 |
| T, TFT |
| CCL2, SCYA2, MCP1, MCAF |
| 3 | PD | ADH1C, ADH3 |
| TBP, SCA17, HDL4 |
| MAPT, MTBT1, DDPAC, MSTD |
| 3 | OCD | BDNF |
| HTR2A |
| SLC6A4, HTT, OCD1 |
| 3 | BETHLEM MYOPATHY | COL6A3 |
| COL6A1, OPLL |
| COL6A2 |
| 3 | MONILETHRIX | KRT81, KRTHB1, HB1 |
| KRT83, KRTHB3, HB3 |
| KRT86, KRTHB6, HB6 |
| 3 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 | EDNRA |
| TNF, TNFA |
| ESR1, ESR |
| 3 | MDB | PTCH2 |
| SUFU, SUFUXL, SUFUH |
| BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| 3 | LADD | FGFR3, ACH |
| FGF10 |
| FGFR2, BEK, CFD1, JWS |
| 3 | FIH | CASR, HHC1, PCAR1, FIH, EIG8 |
| GCMB |
| PTH |
| 3 | HYPERTRIGLYCERIDEMIA, FAMILIAL | RP1, ORP1 |
| APOA5 |
| LIPI, LPDL, PRED5 |
| 3 | EPPK | KRT1, EPPK, NEPPK, EHK |
| KRT9, EPPK |
| KRT16, FNEPPK |
| 3 | HBFQTL1 | HBB |
| HBG1 |
| HBG2, TNCY |
| 3 | HEINZ BODY ANEMIAS | HBB |
| HBA1, HBH |
| HBA2, HBH |
| 3 | GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS | SLC6A20, XT3 |
| SLC6A19, HND |
| SLC36A2, PAT2 |
| 3 | POAG | CYP1B1, GLC3A |
| GLC1B |
| OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 |
| 3 | EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED | KRT5, DDD |
| ITGB4 |
| KRT14 |
| 3 | EHLERS-DANLOS SYNDROME, TYPE I | COL5A2 |
| COL5A1 |
| COL1A1 |
| 3 | BDA2 | BMPR1B, ALK6 |
| BMP2, BMP2A, BDA2 |
| GDF5, CDMP1, SYNS2, OS5 |
| 3 | AS | UBE3A, ANCR |
| CDKL5, STK9, ISSX, EIEE2 |
| MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 3 | AMYLOIDOSIS, FAMILIAL VISCERAL | FGA |
| APOA1 |
| LYZ |
| 3 | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING | AIP, XAP2, ARA9 |
| SSTR5 |
| GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 2 | | WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL |
| TET2, KIAA1546, MDS |
| 2 | | AKR1C2, DDH2, DD2, HAKRD, SRXY8 |
| AKR1C4, CHDR, CDR, HAKRA, DD4 |
| 2 | | LCRB |
| HBB |
| 2 | | HBA1, HBH |
| HBA2, HBH |
| 2 | | GDF6, MCOP4, KFS1, MCOPCB6 |
| GDF3, KFS3, MCOPCB6, MCOP7 |
| 2 | | KCNH2, LQT2, HERG, SQT1 |
| ALG10, KCR1 |
| 2 | IGHD1B | GHRHR, GHRFR, IGHD1B |
| GH1, GHN, IGHD1B |
| 2 | COWDEN-LIKE SYNDROME | SDHB, SDH2, SDHIP, PGL4 |
| SDHD, PGL1 |
| 2 | LNCR2 | CHRNA3, LNCR2, PAOD2 |
| CHRNA5, LNCR2 |
| 2 | IPD1 | TIRAP, BACTS1 |
| IRAK4, REN64, IPD1 |
| 2 | ARMD4 | HF1, CFH, HUS, ARMD4, AHUS1 |
| FKBP10, FKBP65, OI6 |
| 2 | TRIFUNCTIONAL PROTEIN DEFICIENCY | HADHA, MTPA |
| HADHB |
| 2 | SCA8 | ATXN8 |
| ATXN8OS, SCA8, KLHL1AS |
| 2 | SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO | HLA-A |
| HLA-B, SPDA1 |
| 2 | PERRS | RGS9, PERRS |
| RGS9BP, R9AP, RGS9, PERRS |
| 2 | AITD3 | ZFAT1, ZNF406, AITD3 |
| TG, AITD3, TDH3 |
| 2 | MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET | PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2 |
| BEST1, VMD2, ARB, RP50 |
| 2 | ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS | KRT1, EPPK, NEPPK, EHK |
| KRT10, EHK, BCIE, BIE |
| 2 | PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO | LTA, TNFB |
| NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 2 | ANON1 | BDNF |
| HTR2A |
| 2 | LAM | TSC1, LAM |
| TSC2, LAM |
| 2 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO | OPA1, NTG, NPG |
| OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 |
| 2 | RMD | RMD1 |
| CAV3, LGMD1C, LQT9 |
| 2 | PROPIONIC ACIDEMIA | PCCB |
| PCCA |
| 2 | USH2C | GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C |
| PDZD7 |
| 2 | NEUROPATHY, CONGENITAL HYPOMYELINATING | MPZ, CMT1B, CMTDI3, CHM, DSS |
| EGR2, KROX20 |
| 2 | RENAL CELL CARCINOMA, PAPILLARY | PRCC, RCCP1 |
| MET, AUTS9 |
| 2 | CORTISONE REDUCTASE DEFICIENCY | H6PD, GDH, G6PDH |
| HSD11B1, HSD11, HSD11L |
| 2 | ARVD5 | TMEM43, ARVD5, ARVC5 |
| LAMR1, LAMBR |
| 2 | FPLD3 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 |
| PPP1R3A, PPP1R3 |
| 2 | CCL | CRYGC, CRYG3, CCL |
| CRYBB2, CRYB2 |
| 2 | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE | IL6, IFNB2, BSF2, HSF, HGF |
| MIF |
| 2 | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | GHSR |
| GHR |
| 2 | THALASSEMIAS | HBA1, HBH |
| HBA2, HBH |
| 2 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | ABCA1, ABC1, HDLDT1, TGD |
| APOA1 |
| 2 | BARTTER SYNDROME, TYPE 4A | CLCNKB |
| BSND |
| 2 | OPLL | ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2 |
| COL6A1, OPLL |
| 2 | SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION | DCLRE1C, ARTEMIS, SCIDA |
| LIG4 |
| 2 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | RAG1 |
| RAG2 |
| 2 | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | ZFP57, TNDM1 |
| PLAGL1, ZAC, LOT1 |
| 2 | DFNB12 | ATP2B2, PMCA2 |
| CDH23, USH1D |
| 2 | USH1D | CDH23, USH1D |
| PCDH15, DFNB23, USH1F |
| 2 | NEPPK | KRT1, EPPK, NEPPK, EHK |
| KRT16, FNEPPK |
| 2 | BUDD-CHIARI SYNDROME | F5 |
| JAK2 |
| 2 | HMN5 | GARS, SMAD1, CMT2D, HMN5 |
| BSCL2, SPG17, HMN5 |
| 2 | FTD | PSEN1, AD3 |
| MAPT, MTBT1, DDPAC, MSTD |
| 2 | HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO | IFNGR1 |
| PTPRZ1, PTP18 |
| 2 | KFSDX | MBTPS2, S2P, IFAP, KFSDX |
| SAT1, SSAT, KFSD, KFSDX |
| 2 | CBBM | OPN1LW, RCP, CBP, CBBM |
| OPN1MW, GCP, CBD, CBBM |
| 2 | ISS | SHOX, GCFX, SS, PHOG |
| SHOXY |
| 2 | USH2A | USH2A, RP39 |
| PDZD7 |
| 2 | RESTRICTIVE DERMOPATHY, LETHAL | ZMPSTE24, FACE1, STE24, MADB |
| LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 2 | THROMBASTHENIA OF GLANZMANN AND NAEGELI | ITGA2B, GP2B, CD41B, GT, BDPLT2 |
| ITGB3, GP3A, GT, BDPLT2 |
| 2 | IBD1 | IL6, IFNB2, BSF2, HSF, HGF |
| NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 2 | REFSUM DISEASE, ADULT | PEX7, RCDP1 |
| PHYH, PAHX |
| 2 | ACDMPV | CPS1 |
| FOXF1, FKHL5, ACDMPV |
| 2 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE II | NEK1, SRPS2 |
| DYNC2H1, DNCH2, DHC2, ATD3 |
| 2 | PMDS | AMHR2, AMHR |
| AMH, MIF |
| 2 | MEGALOBLASTIC ANEMIA 1 | CUBN, IFCR, MGA1 |
| AMN |
| 2 | PANCREATIC CARCINOMA | KRAS, KRAS2, RASK2, NS |
| TP53, P53, LFS1 |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE III | COL1A2 |
| COL1A1 |
| 2 | NEUROBLASTOMA, SUSCEPTIBILITY TO | KIF1B, CMT2A, CMT2A1, NBLST1 |
| NME1, NM23 |
| 2 | MYOCLONIC EPILEPSY OF LAFORA | NHLRC1, EPM2A, EPM2B |
| EPM2A, MELF, EPM2 |
| 2 | MYELOMA, MULTIPLE | IRF4, LSIRF |
| LIG4 |
| 2 | MYELOFIBROSIS | JAK2 |
| SH2B3, LNK |
| 2 | MYASTHENIA, LIMB-GIRDLE, FAMILIAL | AGRN |
| DOK7, C4orf25, CMS1B |
| 2 | SMA3 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| SMN2 |
| 2 | MITOCHONDRIAL COMPLEX II DEFICIENCY | SDHA, SDH1, SDHF, CMD1GG, PGL5 |
| SDHAF1 |
| 2 | LANGER MESOMELIC DYSPLASIA | SHOX, GCFX, SS, PHOG |
| SHOXY |
| 2 | STGD1 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| CNGB3, ACHM3, ACHM1 |
| 2 | HFE | HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| BMP2, BMP2A, BDA2 |
| 2 | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS | RAG1 |
| RAG2 |
| 2 | GLYCOGEN STORAGE DISEASE Ic | SLC17A3, NPT4 |
| SLC37A4, G6PT1 |
| 2 | SHEP1 | OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 |
| HERC2, SHEP1 |
| 2 | EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA | ITGA6 |
| ITGB4 |
| 2 | RDEB | COL7A1 |
| MMP1, CLG |
| 2 | EV | TMC8, EVER2, EV2 |
| TMC6, EVER1, EV1 |
| 2 | EVC | EVC |
| LBN, EVC2 |
| 2 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE | EDARADD, ED3, EDA3 |
| EDAR, DL, ED3, EDA3, HRM1 |
| 2 | PLOSL | TREM2 |
| TYROBP, PLOSL, DAP12 |
| 2 | CYSTINURIA | SLC3A1, ATR1, D2H, NBAT |
| SLC7A9, CSNU3 |
| 2 | CF | CFTR, ABCC7, CF, MRP7 |
| TGFB1, DPD1, CED |
| 2 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I | EFEMP2, FBLN4, UPH1 |
| FBLN5, ARMD3 |
| 2 | CRYPTORCHIDISM, UNILATERAL OR BILATERAL | LGR8, GREAT |
| INSL3 |
| 2 | FRASER SYNDROME | FRAS1 |
| FREM2 |
| 2 | CIRRHOSIS, FAMILIAL | KRT8 |
| KRT18 |
| 2 | OSMED | COL11A2, STL3, DFNA13, DFNB53 |
| COL2A1 |
| 2 | CHARGE SYNDROME | SEMA3E, SEMAH, KIAA0331 |
| CHD7, IS3, KAL5 |
| 2 | CD | HLA-DQA1, CELIAC1 |
| HLA-DQB1, CELIAC1 |
| 2 | BESC1 | CFTR, ABCC7, CF, MRP7 |
| SCNN1B, BESC1 |
| 2 | SITOSTEROLEMIA | ABCG5 |
| ABCG8, GBD4 |
| 2 | ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE | PTGER2 |
| TBX21, TBET |
| 2 | FADS | DOK7, C4orf25, CMS1B |
| RAPSN, CMS1D, CMS1E |
| 2 | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE | SLC25A38 |
| GLRX5, C14orf87, PRO1238, FLB4739 |
| 2 | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | COL4A3 |
| COL4A4 |
| 2 | OCA2 | OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 |
| MC1R, SHEP2, CMM5 |
| 2 | AFIBRINOGENEMIA, CONGENITAL | FGA |
| FGB |
| 2 | WHITE SPONGE NEVUS OF CANNON | KRT4, CYK4 |
| KRT13 |
| 2 | VHL | VHL |
| CCND1, PRAD1, BCL1 |
| 2 | RENAL ADYSPLASIA | RET, MEN2A, HSCR1 |
| UPK3A, UPK3, UPIII |
| 2 | TS | TSC1, LAM |
| TSC2, LAM |
| 2 | PEE1 | EPHX1 |
| NOS3 |
| 2 | THC2 | ANKRD26, KIAA1074, THC2 |
| MASTL, FLJ14813, GWL, THC2 |
| 2 | SYM1 | NOG, SYM1, SYNS1 |
| GDF5, CDMP1, SYNS2, OS5 |
| 2 | ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA | MPZ, CMT1B, CMTDI3, CHM, DSS |
| PMP22, CMT1A, CMT1E, DSS |
| 2 | PPH1 | BMPR2, PPH1 |
| MADH9, SMAD9, MADH6 |
| 2 | LIDDLE SYNDROME | SCNN1B, BESC1 |
| SCNN1G, PHA1, BESC3 |
| 2 | PWS | NDN |
| SNRPN |
| 2 | PORPHYRIA VARIEGATA | PPOX |
| HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| 2 | PORPHYRIA CUTANEA TARDA | UROD |
| HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| 2 | JPS | BMPR1A, ACVRLK3, ALK3 |
| MADH4, DPC4, SMAD4, JIP |
| 2 | PCLD | SEC63 |
| PRKCSH, G19P1, PCLD |
| 2 | PICK DISEASE OF BRAIN | PSEN1, AD3 |
| MAPT, MTBT1, DDPAC, MSTD |
| 2 | PC2 | KRT6B, PC2 |
| KRT17, PC2, PCHC1 |
| 2 | PC1 | KRT6A |
| KRT16, FNEPPK |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE IV | COL1A2 |
| COL1A1 |
| 2 | OSTEOGENESIS IMPERFECTA, TYPE IIA | COL1A2 |
| COL1A1 |
| 2 | NEVUS, EPIDERMAL | PIK3CA |
| FGFR3, ACH |
| 2 | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT | MTMR14, C3orf29, HJUMPY |
| DNM2, CMTDIB, CMTDI1, CMT2M |
| 2 | MYOCLONIC DYSTONIA | SGCE, DYT11 |
| DRD2 |
| 2 | MTS | MSH2, COCA1, FCC1, HNPCC1 |
| MLH1, COCA2, HNPCC2 |
| 2 | MESOTHELIOMA, MALIGNANT | BCL10 |
| WT1, NPHS4 |
| 2 | MTC | NTRK1, TRKA, MTC |
| RET, MEN2A, HSCR1 |
| 2 | LFS1 | CDKN2A, MTS1, P16, MLM, CMM2 |
| TP53, P53, LFS1 |
| 2 | PHA2 | WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 |
| WNK4, PRKWNK4, PHA2B |
| 2 | GLM1 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 |
| ERBB2, NGL, NEU, HER2 |
| 2 | GLC1A | MYOC, TIGR, GLC1A, JOAG, GPOA |
| CYP1B1, GLC3A |
| 2 | EKV | GJB3, CX31, DFNA2B |
| GJB4, CX30.3 |
| 2 | ERYTHROCYTOSIS, FAMILIAL, 1 | SH2B3, LNK |
| EPOR |
| 2 | PILOMATRIXOMA | MUTYH, MYH |
| CTNNB1 |
| 2 | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED | KRT5, DDD |
| KRT14 |
| 2 | EPIDERMOLYSIS BULLOSA SIMPLEX, 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, EDS3 |
| 2 | HED | EDARADD, ED3, EDA3 |
| EDAR, DL, ED3, EDA3, HRM1 |
| 2 | DLB | SNCA, NACP, PARK1, PARK4 |
| SNCB |
| 2 | LWD | SHOX, GCFX, SS, PHOG |
| SHOXY |
| 2 | CUTIS LAXA, AUTOSOMAL DOMINANT | ELN |
| FBLN5, ARMD3 |
| 2 | CJD | HLA-DQB1, CELIAC1 |
| PRNP, PRIP |
| 2 | JWS | FGFR1, FLT2, KAL2, OGD |
| FGFR2, BEK, CFD1, JWS |
| 2 | MECD | KRT3 |
| KRT12 |
| 2 | COLOBOMA, OCULAR | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| PAX6, AN2, MGDA |
| 2 | CPI | SATB2, KIAA1034 |
| UBB |
| 2 | CMD1A | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| MYBPC3, CMH4 |
| 2 | EHK | KRT1, EPPK, NEPPK, EHK |
| KRT10, EHK, BCIE, BIE |
| 2 | BDA1 | IHH, BDA1 |
| BDA1B |
| 2 | BLOOD GROUP, P SYSTEM | B3GALT3, GLCT3, P |
| A4GALT, PK |
| 2 | ASMD | FOXE3, FKHL12, ASMD |
| PITX3, CTPP4 |
| 2 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS | MITF, WS2A |
| TYR, SHEP3, CMM8 |
| 2 | GLOBOZOOSPERMIA | SPATA16, SPGF6 |
| GOPC, PIST, FIG, CAL |
| 2 | PFEIFFER SYNDROME | FGFR1, FLT2, KAL2, OGD |
| FGFR2, BEK, CFD1, JWS |
| 2 | SCS | TWIST1, ACS3, SCS, CRS1 |
| FGFR2, BEK, CFD1, JWS |
| 1 | | MYF6, CNM3 |
| 1 | | MDM2, ACTFS |
| 1 | | GLCCI1, TSSN1, GCTR |
| 1 | | MEGF10, KIAA1780, EMARDD |
| 1 | | IL10, CSIF, GVHDS |
| 1 | | DNM1L, DRP1, DVLP, DYMPLE, EMPF |
| 1 | | MLH3, HNPCC7 |
| 1 | | CISH, BACTS2 |
| 1 | | TIRAP, BACTS1 |
| 1 | | POLR3B, RPC2, C128, HLD8 |
| 1 | | C4A, C4S, C4AD |
| 1 | | C4B, C4F, C4BD |
| 1 | | WDR19, ATD5, NPHP13, CED4 |
| 1 | | WDR19, ATD5, NPHP13, CED4 |
| 1 | | WDR19, ATD5, NPHP13, CED4 |
| 1 | | C4A, C4S, C4AD |
| 1 | | SIGMAR1, SRBP, ALS16 |
| 1 | | MBL2, MBL, MBP1, MBL2D |
| 1 | | CD209, CDSIGN |
| 1 | | CSF2RB, SMDP5 |
| 1 | | MYH14, KIAA2034, DFNA4, PNMHH |
| 1 | | MSH6, GTBP, HNPCC5 |
| 1 | | PNLIP, PNLIPD |
| 1 | | PMS2, PMSL2, HNPCC4 |
| 1 | | MYBPC1 |
| 1 | | NRXN1, PTHSL2, SCZD17 |
| 1 | | TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B |
| 1 | | ADAM17, TACE, NISBD |
| 1 | | BAP1, TPDS |
| 1 | | MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25, FGLDS2 |
| 1 | | NRXN1, PTHSL2, SCZD17 |
| 1 | | PSMC3IP, TBPIP, GT198, HOP2, ODG3 |
| 1 | | CAV3, LGMD1C, LQT9 |
| 1 | | BRCA1, PSCP, BROVCA1, PNCA4 |
| 1 | | AMACR, CBAS4, AMACRD |
| 1 | | SCN8A, CIAT |
| 1 | | LRP4, MEGF7, CLSS, SOST2 |
| 1 | | MIR184, MIRN184, KTCNCT |
| 1 | | ADK |
| 1 | | BOLA3, MMDS2 |
| 1 | | C19orf12 |
| 1 | | C6orf221, ECAT1, HYDM2 |
| 1 | | LEPREL1, P3H2, MCVD |
| 1 | | RAD51L3, RAD51D, BROVCA4 |
| 1 | | COL9A2, EDM2, STL5 |
| 1 | | PLA2G7, PAFAH, PAFAD |
| 1 | | ACSF3 |
| 1 | | EPB41L1, MRD11 |
| 1 | | CACNG2, MRD10 |
| 1 | | KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 |
| 1 | | GRIN1, NMDAR1, MRD8 |
| 1 | | FAM20A, AIGFS |
| 1 | | EIF4G1, EIF4G, PARK18 |
| 1 | | MOG, NRCLP7 |
| 1 | | MED23, MRT18 |
| 1 | | IER3IP1, MEDS |
| 1 | | SYT14, SCAR11 |
| 1 | | DYNC1H1, DNCL, DNECL, CMT20 |
| 1 | | CDON, CDO, HPE11 |
| 1 | | RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 |
| 1 | | IGFBP7, MAC25, RAMSVPS |
| 1 | | RAB18, WARBM3 |
| 1 | | DOCK6, KIAA1395, AOS2 |
| 1 | | KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 |
| 1 | | CPT2, IIAE4 |
| 1 | | B9D1, MKSR1, MKS9 |
| 1 | | CCDC8, 3M3 |
| 1 | | IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP |
| 1 | | VPS35, MEM3, PARK17 |
| 1 | | MAN1B1, MRT15 |
| 1 | | GP6, GPIV, BDPLT11 |
| 1 | | ITGA2, CD49B, BR, BDPLT9 |
| 1 | | LAMB2, LAMS, NPHS5 |
| 1 | | SCN4A, HYPP, NAC1A, HOKPP2 |
| 1 | | PTPRO, GLEPP1, NPHS6 |
| 1 | | VSX1, RINX, PPCD, PPD, KTCN1, CAASDS |
| 1 | | HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| 1 | | RNF135, MMFD |
| 1 | | PDE8B, PPNAD3, ADSD |
| 1 | | IL11RA, CRSDA |
| 1 | | KCNJ13, SVD, LCA16 |
| 1 | | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | | MAK, RP62 |
| 1 | | CLRN1, USH3A, USH3, RP61 |
| 1 | | B9D2, MKS10 |
| 1 | | TECT1, JBTS13 |
| 1 | | GATA2, DCML, MONOMAC |
| 1 | | PLDN, PA, HPS9 |
| 1 | | PRDM5, BCS2 |
| 1 | | ZNF644, MYP21 |
| 1 | | SDHA, SDH1, SDHF, CMD1GG, PGL5 |
| 1 | | GPX1, GPXD |
| 1 | | AANAT, SNAT, DSPS |
| 1 | | STAT1, CANDF7 |
| 1 | | GDF8, MSTN, MSLHP |
| 1 | | TBXAS1, GHOSAL, CYP5, BDPLT14 |
| 1 | | FZD6, NDNC10 |
| 1 | | BLVRA |
| 1 | | NOP56, SCA36 |
| 1 | | SMAC, DIABLO, DFNA64 |
| 1 | | COL9A1, EDM6, STL4 |
| 1 | | COL9A1, EDM6, STL4 |
| 1 | | TMCO1, CFSMR |
| 1 | | MYO1E, MYO1C, FSGS6 |
| 1 | | LDHB, LDHBD |
| 1 | | CHIT, CHITD |
| 1 | | KIF7, HLS2, ACLS, JBTS12 |
| 1 | | DNMT1, MCMT, HSN1E |
| 1 | | LAMC3, OCCM |
| 1 | | CEP57, PIG8, TSP57, KIAA0092, MVA2 |
| 1 | | DOCK8, MRD2 |
| 1 | | PDHB, PDHBD |
| 1 | | ALDH6A1, MMSDH |
| 1 | | DYRK1A, MNBH, MNB, MRD7 |
| 1 | | IGKC, IGKCD |
| 1 | | FN1, FN, LETS, FNZ, GFND2 |
| 1 | | LAMB1 |
| 1 | | IFT43, C14orf179, CED3 |
| 1 | | CAT |
| 1 | | AARS2, KIAA1270, MTALARS, COXPD8 |
| 1 | | WDR35, NAOFEN, KIAA1336, CED2 |
| 1 | | MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 |
| 1 | | MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 |
| 1 | | FANCM, KIAA1596 |
| 1 | | PHF9, FANCL |
| 1 | | XRCC9, FANCG |
| 1 | | HP |
| 1 | | PIGN, MCAHS |
| 1 | | CLEC7A, CLECSF12, DECTIN1, CANDF4 |
| 1 | | IMPAD1, GPAPP, IMPA3 |
| 1 | | BLOC1S3, BLOS3, HPS8 |
| 1 | | DTNBP1, HPS7 |
| 1 | | HPS6, RU |
| 1 | | HPS5, RU2, KIAA1017 |
| 1 | | HPS4 |
| 1 | | HPS3 |
| 1 | | TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13 |
| 1 | | ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2 |
| 1 | | AP4S1, CPSQ6 |
| 1 | | AP4B1, CPSQ5 |
| 1 | | FLNC, FLN2, ABPA, ABPL, MFM5, MPD4 |
| 1 | | NAT8L, CML3, NACED |
| 1 | | ACAT2 |
| 1 | | ATP5E, MC5DN3 |
| 1 | | TMEM70, MC5DN2 |
| 1 | | ABCC9, SUR2, CMD1O, ATFB12 |
| 1 | | GJA5, CX40, ATFB11 |
| 1 | | PRSS1, TRY1 |
| 1 | | ACTA2, ACTSA, AAT6, MYMY5 |
| 1 | | TUBB3, TUBB4, CFEOM3A, CDCBM |
| 1 | | GATA2, DCML, MONOMAC |
| 1 | | LTC4S |
| 1 | | A2M , A2MD |
| 1 | | CLDN14, DFNB29 |
| 1 | | HMOX1 |
| 1 | | HAGH, GLO2 |
| 1 | | APOC3, HALP2 |
| 1 | | LIPC, HL, LIPH, HDLCQ12 |
| 1 | | PROZ, PZ |
| 1 | | PSP, PSPHD |
| 1 | | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | | TECR, GPSN2, TER, SC2, MRT14 |
| 1 | | NDE1, NUDE, LIS4 |
| 1 | | GOSR2, GS27, EPM6 |
| 1 | | DNAL1, C14orf168, CILD16 |
| 1 | | TBXA2R, BDPLT13 |
| 1 | | BANF1, BAF, NGPS |
| 1 | | TINF2, TIN2, DKCA3 |
| 1 | | TERT, TCS1, EST2, DKCA2, DKCB4 |
| 1 | | WRAP53, TCAB1, WDR79, DKCB3 |
| 1 | | NOLA2, NHP2, DKCB2 |
| 1 | | OTX2, MCOPS5, CPHD6 |
| 1 | | PRPF6, PRP6, ANT1, TOM, C20orf14 |
| 1 | | SERPINF1, PEDF, OI12 |
| 1 | | KRT74, K6IRS4, KRT6IRS4, HTSS2 |
| 1 | | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 |
| 1 | | HBG2, TNCY |
| 1 | | XRCC3, CMM6 |
| 1 | | GRIN2A, NMDAR2A, EPND |
| 1 | | GRIN2B, NMDAR2B, MRD6 |
| 1 | | NCF4, P40PHOX |
| 1 | | DPY19L2, SPGF9 |
| 1 | | NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 |
| 1 | | IL17F, ML1, CANDF6 |
| 1 | | IL31RA, GLMR, GPL, PLCA2 |
| 1 | | VCP, IBMPFD, ALS14 |
| 1 | | IL17RA, IL17R, CANDF5 |
| 1 | | SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP |
| 1 | | SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 |
| 1 | | CD4 |
| 1 | | LIPN, LIPL4, LI4 |
| 1 | | ACACA, ACAC, ACC1, ACACAD |
| 1 | | HEPACAM, MLC2A, MLC2B |
| 1 | | HEPACAM, MLC2A, MLC2B |
| 1 | | CFD, ADN |
| 1 | | TGM6, TG6, TGY, SCA35 |
| 1 | | TDRD7, KIAA1529, TRAP, CATC4 |
| 1 | | NTRK2, TRKB |
| 1 | | TCTN2, TECT2, MKS8 |
| 1 | | CNNM2, ACDP2 |
| 1 | | BAG3 |
| 1 | | PLIN1, PLIN, FPLD4 |
| 1 | | NEXN, NELIN, CMD1CC, CMH20 |
| 1 | | CALR3, CRT2, CMH19 |
| 1 | | PLN, PLB, CMD1P, CMH18 |
| 1 | | JPH2, JP2, CMH17 |
| 1 | | ECE1 |
| 1 | | CRYAB, CRYA2, CTPP2 |
| 1 | | SLC26A5, PRES |
| 1 | | SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP |
| 1 | | MERTK, RP38 |
| 1 | | DHDDS, HDS, RP59 |
| 1 | | FCN3, HAKA1 |
| 1 | | GNAT2, ACHM4 |
| 1 | | CACNB4, EJM6, EA5, EIG9 |
| 1 | | GDF1, DTGA3, DORV |
| 1 | | CFC1, CRYPTIC, HTX2, DTGA2 |
| 1 | | FUT6 |
| 1 | | ITPA |
| 1 | | SP7, OSX, OI11 |
| 1 | | SERPINH2, PPROM, CBP2, CBP1, OI10 |
| 1 | | SARS2 |
| 1 | | TULP1, RP14, LCA15 |
| 1 | | DHFR |
| 1 | | MYOZ2, CMH16 |
| 1 | | IMPDH1, RP10, LCA11 |
| 1 | | CRB1, RP12, LCA8 |
| 1 | | ACTA2, ACTSA, AAT6, MYMY5 |
| 1 | | PRICKLE2, EPM5 |
| 1 | | SLC24A1, NCKX1, CSNB1D |
| 1 | | CRX, CORD2, CRD, LCA7 |
| 1 | | GUCA1B, GCAP2, GUCA2, RP48 |
| 1 | | RPGRIP1, LCA6, CORD13 |
| 1 | | C9 |
| 1 | | NEK8, JCK, NPHP9 |
| 1 | | CEP152, KIAA0912, MCPH4, SCKL5 |
| 1 | | TTC21B, THM1, NPHP12, ATD4 |
| 1 | | TTC21B, THM1, NPHP12, ATD4 |
| 1 | | DAG1, DAG, MDDGC7 |
| 1 | | CYP7B1, CBAS3, SPG5A |
| 1 | | SEPSECS, SLA, LP, PCH2D |
| 1 | | PDE6A, PDEA, RP43 |
| 1 | | USH2A, RP39 |
| 1 | | CCDC40, KIAA1640 |
| 1 | | CCDC39 |
| 1 | | CDC6, CDC18L |
| 1 | | CDT1 |
| 1 | | ORC6, ORC6L |
| 1 | | PDE6B, PDEB, RP40, CSNBAD2 |
| 1 | | ORC4, ORC4L |
| 1 | | STAT1, CANDF7 |
| 1 | | MADH3, SMAD3, LDS1C |
| 1 | | RPE65, RP20, LCA2 |
| 1 | | CD55, DAF, CROM |
| 1 | | MASP2 |
| 1 | | C8A |
| 1 | | C8B |
| 1 | | CX3CR1, GPR13, V28 |
| 1 | | C1S |
| 1 | | MYLK, MLCK, AAT7 |
| 1 | | C3, ARMD9, AHUS5 |
| 1 | | LOC387715, ARMD8 |
| 1 | | RGR, RP44 |
| 1 | | CNGB1, CNCG3L, CNCG2, RP45 |
| 1 | | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | | CRYAB, CRYA2, CTPP2 |
| 1 | | MAP3K1, MEKK1, MEKK, SRXY6 |
| 1 | | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | | FADD |
| 1 | | SAG, RP47 |
| 1 | | RAXL1, QRX, CORD11, ARMD6 |
| 1 | | CNGA1, CNCG1, RP49 |
| 1 | | AHCY, SAHH |
| 1 | | ACVR2B, ACTRIIB, HTX4 |
| 1 | | NRL, D14S46E, RP27 |
| 1 | | AP4E1, CPSQ4 |
| 1 | | CYP11A, P450SCC |
| 1 | | TMPO, LAP2, CMD1T |
| 1 | | PSEN1, AD3 |
| 1 | | PSENEN, PEN2 |
| 1 | | RHO, RP4, OPN2, CSNBAD1 |
| 1 | | JAM3 |
| 1 | | ANO10, TMEM16K, SCAR10 |
| 1 | | SCP2 |
| 1 | | PLEC1, PLEC, PLTN, EBS1, LGMD2Q |
| 1 | | PLCB1, KIAA0581, PLCB1A, PLCB1B, EIEE12 |
| 1 | | SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS |
| 1 | | KCNQ2, EBN1, EIEE7, BFNS1 |
| 1 | | MSRB3, DFNB74 |
| 1 | | POLR1D, RPA16, RPAC2, TCS2 |
| 1 | | EDN3, WS4B, HSCR4 |
| 1 | | GDNF, HSCR3 |
| 1 | | SLC25A19, DNC, MUP1, MCPHA |
| 1 | | ATL1, SPG3A, HSN1D |
| 1 | | BRAF, NS7 |
| 1 | | BRAF, NS7 |
| 1 | | SUMO1, UBL1, SMT3, OFC10 |
| 1 | | GDF3, KFS3, MCOPCB6, MCOP7 |
| 1 | | GDF3, KFS3, MCOPCB6, MCOP7 |
| 1 | | PSEN2, AD4, STM2, CMD1V |
| 1 | | KCNE1, JLNS, LQT5, JLNS2 |
| 1 | | PSEN1, AD3 |
| 1 | | KCNE2, MIRP1, LQT6, ATFB4 |
| 1 | | TNNI3, CMH7, CMD2A, RCM1, CMD1FF |
| 1 | | HES7, SCDO4 |
| 1 | | EP300, RSTS2 |
| 1 | | F2 |
| 1 | | KCNJ5, GIRK4, KATP1, LQT13 |
| 1 | | CENPJ, CPAP, MCPH6, SCKL4 |
| 1 | | SOX17, VUR3 |
| 1 | | KLF1, EKLF, INLU, HBFQTL6 |
| 1 | | MTPAP, PAPD1, SPAX4 |
| 1 | | SOBP, JXC1, MRAMS |
| 1 | | FOXP1, QRF1 |
| 1 | | MED17, CRSP6, CRSP77, TRAP80, DRIP80 |
| 1 | | POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS |
| 1 | | ALG11, KIAA1266, CDG1P |
| 1 | | CDHR1, PCDH21, PRCAD, CORD15 |
| 1 | | APC, GS, FPC, BTPS2 |
| 1 | | IDH2, IDPM, D2HGA2 |
| 1 | | KCNK18, TRESK, TRIK, MGR13 |
| 1 | | KIAA0415, SPG48 |
| 1 | | CD320, 8D6, 8D6A, TCBLR |
| 1 | | UCHL1, PARK5 |
| 1 | | SDHA, SDH1, SDHF, CMD1GG, PGL5 |
| 1 | | KARS, CMTRIB |
| 1 | | SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C |
| 1 | | CHUK, IKBKA, NFKBIKA, IKKA, IKK1 |
| 1 | | MCFD2, F5F8D2 |
| 1 | | ZNF513, RP58 |
| 1 | | DHDPSL, HP3 |
| 1 | | COG5, GOLTC1, GTC90, CDG2I |
| 1 | | PTPN14, PEZ |
| 1 | | WDR35, NAOFEN, KIAA1336, CED2 |
| 1 | | SORT1, NT3, LDLCQ6 |
| 1 | | RP1L1 |
| 1 | | PDE6G, PDEG, RP57 |
| 1 | | IMPG2, IPM200, RP56 |
| 1 | | ARL6, BBS3, RP55 |
| 1 | | PVRL4, PRR4, EDSS1 |
| 1 | | POR |
| 1 | | KLF1, EKLF, INLU, HBFQTL6 |
| 1 | | CBL, CBL2, NSLL |
| 1 | | YARS2, TYRRS, MLASA2 |
| 1 | | C12orf65, COXPD7 |
| 1 | | GPSM2, LGN, PINS, DFNB82 |
| 1 | | VWF, F8VWF |
| 1 | | SIAE, AIS6 |
| 1 | | TMEM67, MKS3, JBTS6, NPHP11 |
| 1 | | CYP19A1, CYP19, ARO |
| 1 | | PRSS56, MCOP6 |
| 1 | | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | | GYG1, GSD15 |
| 1 | | LRRC8A, KIAA1437, AGM5 |
| 1 | | BLNK, SLP65, AGM4 |
| 1 | | CD79A, IGA |
| 1 | | IGLL1, IGO, IGL5, VPREB2, AGM2 |
| 1 | | CD81, TAPA1, CVID6 |
| 1 | | MS4A1, CD20, CVID5 |
| 1 | | TNFRSF13C, BAFFR, CVID4 |
| 1 | | CD19, CVID3 |
| 1 | | SERPINA1, PI, AAT |
| 1 | | COG4, COD1, CDG2J |
| 1 | | DDIT3, GADD153, CHOP10 |
| 1 | | KCNJ5, GIRK4, KATP1, LQT13 |
| 1 | | GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C |
| 1 | | SPTAN1, NEAS, EIEE5 |
| 1 | | LBR, PHA |
| 1 | | GPI |
| 1 | | TTC8, BBS8, RP51 |
| 1 | | GCKR, GKRP, FGQTL5 |
| 1 | | ALX1, CART1, FND3 |
| 1 | | FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1 |
| 1 | | SERPINB6, PI6, PTI, SPI3, DFNB91 |
| 1 | | ALX4, PFM2, FPP, FND2 |
| 1 | | MEF2C, C5DELq14.3; DEL5q14.3 |
| 1 | | SHANK2, CORTBP1, AUTS17 |
| 1 | | OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 |
| 1 | | C2orf71 |
| 1 | | MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD |
| 1 | | ACTC1, CMD1R, CMH11, ASD5, LVNC4 |
| 1 | | MIR2861, MIRN2861, BMND15 |
| 1 | | GRK1, RHOK, RK |
| 1 | | SLC9A9, AUTS16 |
| 1 | | VIPAR, SPE39, C14orf133 |
| 1 | | PNKP, PNK, MCSZ, EIEE10 |
| 1 | | RAD51C, FANCO, BROVCA3 |
| 1 | | DDX11, CHLR1, KRG2 |
| 1 | | CD207, LANGERIN, CLEC4K |
| 1 | | PTPRQ, PTPGMC1, DFNB84 |
| 1 | | RAD51C, FANCO, BROVCA3 |
| 1 | | SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2 |
| 1 | | ITCH, AIP4, NAPP1 |
| 1 | | PTHLH, BDE2 |
| 1 | | HSPB3, HSPL27, HMN2C, DHMN2C |
| 1 | | BLK, MODY11 |
| 1 | | INS, MODY10, IDDM2 |
| 1 | | SH3TC2, KIAA1985, MNMN |
| 1 | | PALB2, FANCN, PNCA3 |
| 1 | | BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| 1 | | SCN4A, HYPP, NAC1A, HOKPP2 |
| 1 | | LRAT, LCA14 |
| 1 | | NKX3-2, BAPX1, SMMD |
| 1 | | PAI1, PLANH1, SERPINE1 |
| 1 | | PTRF, CAVIN, CGL4 |
| 1 | | SMARCA4, BRG1, RTPS2 |
| 1 | | ANO5, TMEM16E, GDD1, LGMD2L |
| 1 | | HAMP, LEAP1, HEPC, HFE2B |
| 1 | | ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2 |
| 1 | | TSPAN12, NET2, EVR5 |
| 1 | | RPS26, DBA10 |
| 1 | | RPS10, DBA9 |
| 1 | | TPRN, C9orf75, DFNB79 |
| 1 | | SLC10A2, NTCP2, PBAM |
| 1 | | AARS, CMT2N |
| 1 | | TNNI3, CMH7, CMD2A, RCM1, CMD1FF |
| 1 | | GRXCR1 |
| 1 | | ZEB1, TCF8, NIL2A, PPCD3, FECD6 |
| 1 | | SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4 |
| 1 | | SOX10, WS4, WS4C, PCWH |
| 1 | | EDN3, WS4B, HSCR4 |
| 1 | | VCL, CMD1W, CMH15 |
| 1 | | IFNG, IFG, IFI |
| 1 | | MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 |
| 1 | | MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 |
| 1 | | EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 |
| 1 | | TNNC1, CMD1Z, CMH13 |
| 1 | | KCNJ18, KIR2.6, TTPP2 |
| 1 | | INF2, FSGS5, C14orf173 |
| 1 | | F13B |
| 1 | | SLITRK1, KIAA1910, TTM |
| 1 | | CA8, CALS, CARP, CAMRQ3 |
| 1 | | F13A1, F13A |
| 1 | | NRAS, ALPS4, NS6 |
| 1 | | TLR1, TIL. LPRS5 |
| 1 | | EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 |
| 1 | | TRPM1, MLSN1, CSNB1C |
| 1 | | WDR72, AI2A3 |
| 1 | | GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ITGA7 |
| 1 | WEILL-MARCHESANI-LIKE SYNDROME | ADAMTS17 |
| 1 | RP50 | BEST1, VMD2, ARB, RP50 |
| 1 | CILD13 | LRRC50, ODA7, CILD13 |
| 1 | MRT13 | TRAPPC9, NIBP, KIAA1882, MRT13 |
| 1 | POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA | TUBA8, TUBAL2 |
| 1 | PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY | PNP, NP |
| 1 | CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES | LTBP4, LTBP4S, LTBP4L |
| 1 | CMD1DD | RBM20 |
| 1 | GABA-TRANSAMINASE DEFICIENCY | ABAT, GABAT |
| 1 | BETA-UREIDOPROPIONASE DEFICIENCY | UPB1, BUP1 |
| 1 | | XPNPEP3, APP3, NPHPL1 |
| 1 | | POMT2, MDDGA2, MDDGB2, MDDGC2 |
| 1 | | POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3 |
| 1 | | POMT2, MDDGA2, MDDGB2, MDDGC2 |
| 1 | | POMT1, MDDGA1, MDDGB1, MDDGC1 |
| 1 | | LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 |
| 1 | | FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 |
| 1 | | FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 |
| 1 | | POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3 |
| 1 | | POMT2, MDDGA2, MDDGB2, MDDGC2 |
| 1 | IBD28 | IL10RA, IL10R, IBD28 |
| 1 | PARKINSONISM-DYSTONIA, INFANTILE | SLC6A3, DAT1 |
| 1 | BRUGADA SYNDROME 8 | HCN4, SSS2 |
| 1 | CMD1CC | NEXN, NELIN, CMD1CC, CMH20 |
| 1 | BRUGADA SYNDROME 7 | SCN3B, SCNB3 |
| 1 | BRUGADA SYNDROME 6 | KCNE3, HOKPP, HYPP |
| 1 | ANTITHROMBIN III DEFICIENCY | AT3 |
| 1 | THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY | HRG |
| 1 | HSAN2B | FAM134B, HSAN2B |
| 1 | MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED | TUBB1 |
| 1 | CANDF4 | CLEC7A, CLECSF12, DECTIN1, CANDF4 |
| 1 | SCN2 | GFI1, ZNF163, SCN2 |
| 1 | CACD2 | PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2 |
| 1 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | DSC3, DSC4 |
| 1 | GLC1O | NTF4 , NTF5, NT5, NT4, GLC1O |
| 1 | CMM5 | MC1R, SHEP2, CMM5 |
| 1 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC | MC1R, SHEP2, CMM5 |
| 1 | STHAG6 | LTBP3, LTBP2, STHAG6 |
| 1 | PKD2 | PKD2 |
| 1 | MCOP4 | GDF6, MCOP4, KFS1, MCOPCB6 |
| 1 | COD4 | PDE6C, PDEA2, COD4 |
| 1 | HNFJ2 | REN, HNFJ2 |
| 1 | ATD3 | DYNC2H1, DNCH2, DHC2, ATD3 |
| 1 | BARTTER SYNDROME, TYPE 4B | CLCNKA |
| 1 | ASD6 | TLL1, TLL, ASD6 |
| 1 | GLC3D | LTBP2, LTBP3, GLC3D |
| 1 | 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED | CBX2, M33, SRXY5 |
| 1 | DFNB77 | LOXHD1, DFNB77 |
| 1 | NBSLD | RAD50, NBSLD |
| 1 | PEOA5 | RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B |
| 1 | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY | GFER, ERV1, ALR |
| 1 | MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS | RIN2, MACS |
| 1 | DFNA50 | MIR96, MIRN96, DFNA50 |
| 1 | MANDP2 | MMP9, CLG4B, MANDP2 |
| 1 | BESC3 | SCNN1G, PHA1, BESC3 |
| 1 | LIVER FAILURE, ACUTE INFANTILE | TRMU, MTO2, TRNT1 |
| 1 | NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY | FOLR1 |
| 1 | ALL | BCR, CML, PHL, ALL |
| 1 | EIG10 | GABRD, GEFSP5, EIG10, EJM7 |
| 1 | CPHD1 | POU1F1, PIT1, CPHD1 |
| 1 | GLM3 | BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| 1 | GLM2 | PTEN, MMAC1, GLM2 |
| 1 | GLYCOGEN STORAGE DISEASE IXc | PHKG2, GSD9C |
| 1 | FL1 | BCL10 |
| 1 | BESC2 | SCNN1A, BESC2 |
| 1 | ARCC2 | EPHA2, ECK, ARCC2, CTPP1, CTPA, ARCC2 |
| 1 | NBLST3 | ALK, NBLST3 |
| 1 | NBLST2 | PMX2B, NBPHOX, PHOX2B, NBLST2 |
| 1 | LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1 | ITK, EMT |
| 1 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 | TPH2, NTPH, ADHD7 |
| 1 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 | TLR3 |
| 1 | FNEPPK | KRT16, FNEPPK |
| 1 | EDMD5 | SYNE2, NUANCE, KIAA1011, EDMD5 |
| 1 | EDMD4 | SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 |
| 1 | MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | CATSPER1, CATSPER, SPGF7 |
| 1 | OPA7 | TMEM126A, OPA7 |
| 1 | SHORT SLEEPER | BHLHE41, BHLHB3, DEC2, SHARP1 |
| 1 | 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE | NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 |
| 1 | POF7 | NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 |
| 1 | SYNS3 | FGF9, SYNS3 |
| 1 | VF2 | DPP6, VF2 |
| 1 | LQT12 | SNT1, LQT12 |
| 1 | MYOPATHY, MYOFIBRILLAR, BAG3-RELATED | BAG3 |
| 1 | DYSTONIA-PARKINSONISM, ADULT-ONSET | PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 |
| 1 | AGS5 | SAMHD1, AGS5, DCIP |
| 1 | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | RNASET2, RNASE6PL |
| 1 | HYPOMYELINATION, GLOBAL CEREBRAL | SLC25A12, ARALAR |
| 1 | RP42 | KLHL7, RP42 |
| 1 | ARCL2B | PYCR1, PRO3, ARCL2B |
| 1 | GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH | FTO |
| 1 | CDG1O | DPM3, CDG1O |
| 1 | CPSQ3 | AP4M1, CPSQ3 |
| 1 | GSD14 | PGM1, GSD14 |
| 1 | GSD11 | LDHA, LDH1, GSD11 |
| 1 | GSD13 | ENO3, GSD13 |
| 1 | AHUS6 | THBD, THRM, AHUS6 |
| 1 | AHUS5 | C3, ARMD9, AHUS5 |
| 1 | AHUS4 | CFB, BF, GBG, AHUS4 |
| 1 | AHUS3 | CFI, FI, AHUS3 |
| 1 | AHUS2 | MCP, CD46, AHUS2 |
| 1 | 3M2 | OBSL1, KIAA0657, 3M2 |
| 1 | PPKS2 | DSP, KPPS2, PPKS2 |
| 1 | CPSQ2 | KANK1, KANK, ANKRD15, KIAA0172, CPSQ2 |
| 1 | EIG8 | CASR, HHC1, PCAR1, FIH, EIG8 |
| 1 | CMD1BB | DSG2, ARVD10, ARVC10, CMD1BB |
| 1 | ERYTHROCYTE AMP DEAMINASE DEFICIENCY | AMPD3 |
| 1 | | TAB2, MAP3K7IP2, KIAA0733, CHTD2 |
| 1 | INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY | IL1RN, MVCD4, DIRA |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE | PAPSS2, ATPSK2 |
| 1 | LAD3 | KIND3, URP2, MIG2B, FERMT3 |
| 1 | BRUGADA SYNDROME 5 | SCN1B, GEFSP1 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | ACAN, AGC1, CSPG1, MSK16, SEDK |
| 1 | HDLCQ12 | LIPC, HL, LIPH, HDLCQ12 |
| 1 | ASD5 | ACTC1, CMD1R, CMH11, ASD5, LVNC4 |
| 1 | IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 | STIM1 |
| 1 | IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 | ORAI1, TMEM142A, CRACM1 |
| 1 | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE | KCNJ10, SESAME |
| 1 | CORD9 | ADAM9, MDC9, MCMP, CORD9 |
| 1 | PORPHYRIA, ACUTE HEPATIC | ALAD, ALADH, PBGS |
| 1 | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | GAMT |
| 1 | ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY | GATM, AGAT |
| 1 | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | SPR |
| 1 | EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS | COX4I2 |
| 1 | LCA13 | RDH12, LCA13 |
| 1 | MCPH7 | STIL, SIL, MCPH7 |
| 1 | KAL6 | FGF8, KAL6 |
| 1 | IMMUNODEFICIENCY, HYPOGAMMAGLOBULINEMIA, AND REDUCED B CELLS | CD79B, IGB, B29, AGM6 |
| 1 | SPH5 | EPB42, SPH5 |
| 1 | PHARC | ABHD12, PHARC |
| 1 | CORD12 | PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 |
| 1 | EA6 | SLC1A3, EAAT1, EA6 |
| 1 | SPH4 | SLC4A1, AE1, EPB3 |
| 1 | MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR WITHOUT METABOLIC ABNORMALITIES | PYCS, GSAS |
| 1 | ECO | ICK, MRK, KIAA0936, ECO |
| 1 | CILD12 | RSPH9, CILD12 |
| 1 | CILD11 | RSPH4A, CILD11 |
| 1 | DFNB1B | GJB6, CX30, DFNA3B, HED, ED2, DFNB1B |
| 1 | DFNA2B | GJB3, CX31, DFNA2B |
| 1 | DFNA3B | GJB6, CX30, DFNA3B, HED, ED2, DFNB1B |
| 1 | MVCD7 | HFE, HLA-H, HFE1, MVCD7, TFQTL2 |
| 1 | MVCD6 | SOD2, MNSOD, MVCD6 |
| 1 | MVCD5 | PON1, PON, ESA, MVCD5 |
| 1 | ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | AK1 |
| 1 | HRM1 | EDAR, DL, ED3, EDA3, HRM1 |
| 1 | MVCD4 | IL1RN, MVCD4, DIRA |
| 1 | MVCD3 | ACE, DCP1, ACE1, MVCD3 |
| 1 | MVCD2 | EPO, MVCD2 |
| 1 | MRD5 | SYNGAP, MRD5 |
| 1 | MRD4 | KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4 |
| 1 | MRD3 | CDH15, CDH14, CDH3, MRD3 |
| 1 | ALS11 | FIG4, KIAA0274, SAC3, ALS11 |
| 1 | IBD25 | CRFB4, IBD25 |
| 1 | DBA8 | RPS7, DBA8 |
| 1 | DBA7 | RPL11, DBA7 |
| 1 | DBA6 | RPL5, DBA6 |
| 1 | BMND12 | FBXO33, FBX33, BMND12 |
| 1 | ADIPQTL1 | ADIPOQ, APM1, GBP28, ADIPQTL1 |
| 1 | BROVCA2 | BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| 1 | FSGS4 | APOL1, FSGS4 |
| 1 | B12QTL1 | FUT2, SE, B12QTL1 |
| 1 | SCN4 | G6PC3, UGRP, SCN4 |
| 1 | MYOPATHY, CONGENITAL, COMPTON-NORTH | CNTN1 |
| 1 | SPG42 | SLC33A1, ACATN, AT1 |
| 1 | AI2A2 | MMP20, AI2A2 |
| 1 | DBA5 | RPL35A, DBA5 |
| 1 | DBA4 | RPS17, RPS17L1, RPS17L2, DBA4 |
| 1 | CGL3 | CAV1, BSCL3, CGL3 |
| 1 | IDDM22 | CCR5, CMKBR5, CCCKR5, IDDM22 |
| 1 | IDDM20 | HNF1A, TCF1, MODY3, IDDM20 |
| 1 | CILD10 | KTU, C14orf104, CILD10 |
| 1 | PPHP | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 1 | PHP1C | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 1 | SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | ZBTB16, ZNF145, PLZF |
| 1 | COMPLEMENT COMPONENT 6 DEFICIENCY | C6 |
| 1 | CILD9 | DNAI2, CILD9 |
| 1 | EPM1B | PRICKLE1, RILP, EPM1B |
| 1 | PREKALLIKREIN DEFICIENCY | KLKB1, KLK3 |
| 1 | RCM3 | TNNT2, CMH2, CMD1D, RCM3, LVNC6 |
| 1 | FACTOR XI DEFICIENCY | F11 |
| 1 | OS5 | GDF5, CDMP1, SYNS2, OS5 |
| 1 | BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS | PLOD3, LH3 |
| 1 | HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM | SLC29A3, ENT3, PHID |
| 1 | PCH2C | TSEN34, PCH2C, LENG5, SEN34 |
| 1 | PCH2B | TSEN2, SEN2, PCH2B |
| 1 | SS2 | BTNL2, SS2 |
| 1 | COLOBOMA, OCULAR, AND ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | SRD5A3, SRD5A2L, CDG1Q |
| 1 | APL | RARA |
| 1 | MAFD7 | XBP1, XBP2 |
| 1 | KAL5 | CHD7, IS3, KAL5 |
| 1 | BMIQ12 | PCSK1, NEC1, PC1, PC3, BMIQ12 |
| 1 | HEPARIN COFACTOR II DEFICIENCY | HCF2, HC2, SERPIND1 |
| 1 | SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE | SLC39A13 |
| 1 | THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR | PLAT, TPA |
| 1 | JLNS2 | KCNE1, JLNS, LQT5, JLNS2 |
| 1 | THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT | PROS1 |
| 1 | SPG35 | FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35 |
| 1 | PSEUDOFOLLICULITIS BARBAE | KRT75, K6HF, PFB |
| 1 | POF6 | FIGLA, POF6 |
| 1 | THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | PROC, PC |
| 1 | OPTB7 | TNFRSF11A, RANK, ODFR, OFE, OPTB7 |
| 1 | CD59 DEFICIENCY | CD59, MIC11 |
| 1 | BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME | KCNK9, TASK3 |
| 1 | JBTS8 | ARL13B, ARL2L1, JBTS8 |
| 1 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | HOXA2 |
| 1 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 | SLC9A3R1, EBP50, NHERF1, NPHLOP2 |
| 1 | NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 | SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2 |
| 1 | JBTS9 | CC2D2A, KIAA1345, MKS6 |
| 1 | MKS6 | CC2D2A, KIAA1345, MKS6 |
| 1 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED | NIPAL4, ICHYN |
| 1 | IBD19 | IRGM, LRG47, IFI1, IBD19 |
| 1 | ECA5 | GABRB3, ECA5 |
| 1 | SHEP10 | TPCN2, TPC2, SHEP10 |
| 1 | IBD17 | IL23R, IBD17 |
| 1 | MYD88D | MYD88, MYD88D |
| 1 | SLEB10 | IRF5, IBD14, SLEB10 |
| 1 | CAN | FGFR3, ACH |
| 1 | IBD14 | IRF5, IBD14, SLEB10 |
| 1 | IBD13 | ABCB1, PGY1, MDR1, IBD13 |
| 1 | ATFB7 | KCNA5, ATFB7 |
| 1 | LEUKODYSTROPHY, HYPOMYELINATING, 4 | HSPD1, SPG13, HSP60, HLD4 |
| 1 | CRCS3 | SMAD7, MADH7, CRCS3 |
| 1 | KPD | PAX4, MODY9, KPD |
| 1 | MODY9 | PAX4, MODY9, KPD |
| 1 | ES | EWSR1, EWS |
| 1 | ATFB6 | NPPA, PND, ANP, ATFB6 |
| 1 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | STXBP1, UNC18, EIEE4 |
| 1 | HISTIOCYTOMA, ANGIOMATOID FIBROUS | CREB1 |
| 1 | CMD1AA | ACTN2, CMD1AA |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA | PLEC1, PLEC, PLTN, EBS1, LGMD2Q |
| 1 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | NFKBIA, IKBA |
| 1 | DYT18 | SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS |
| 1 | CMH12 | CSRP3, CRP3, CLP, CMD1M, CMH12 |
| 1 | TREHALASE DEFICIENCY | TREH |
| 1 | OCULOAURICULAR SYNDROME | HMX1, H6 |
| 1 | AUTS15 | CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 |
| 1 | CMH11 | ACTC1, CMD1R, CMH11, ASD5, LVNC4 |
| 1 | RP41 | PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 |
| 1 | ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME | RBM28 |
| 1 | RHUC2 | SLC2A9, GLUT9, UAQTL2 |
| 1 | MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B |
| 1 | MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE | SUCLA2, MTDPS5 |
| 1 | ALS10 | TARDBP, TDP43, ALS10 |
| 1 | DYT16 | PRKRA, PACT, RAX, DYT16 |
| 1 | RRQTL1 | RNF212, ZHP3 |
| 1 | SPG39 | PNPLA6, NTE, SPG39, NTEMND |
| 1 | CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA | SLC16A12, MCT12, CJMG |
| 1 | SCAR9 | CABC1, COQ8, ADCK3, SCAR9, ARCA2 |
| 1 | CDG1N | RFT1, CDG1N |
| 1 | THC4 | CYCS, CYC, THC4 |
| 1 | ASRT7 | CHI3L1, GP39, YKL40, ASRT7 |
| 1 | ARMD11 | CST3, ARMD11 |
| 1 | RIDDLE SYNDROME | RNF168 |
| 1 | ECA6 | CACNA1H, EIG6, ECA6 |
| 1 | CPVT2 | CASQ2 |
| 1 | HPC13 | MSMB, HPC13 |
| 1 | ALS9 | ANG, RNASE5, ALS9 |
| 1 | LAAHD | GLE1, GLE1L, LCCS, LCCS1 |
| 1 | CILD7 | DNAH11, DNAHC11, CILD7, DNAHBL |
| 1 | GSD12 | ALDOA, GSD12 |
| 1 | CMD2A | TNNI3, CMH7, CMD2A, RCM1, CMD1FF |
| 1 | CMD1Z | TNNC1, CMD1Z, CMH13 |
| 1 | CMD1Y | TPM1, CMH3, CMD1Y |
| 1 | BRUGADA SYNDROME 4 | CACNB2 |
| 1 | BRUGADA SYNDROME 3 | CACNA1C, CACNL1A1, CCHL1A1, TS |
| 1 | HPC12 | EHBP1, KIAA0903, HPC12 |
| 1 | WBCQ1 | DARC, FY, GPD, WBCQ1 |
| 1 | LQT11 | AKAP9, YOTIAO, AKAP450 |
| 1 | LQT10 | SCN4B |
| 1 | LQT9 | CAV3, LGMD1C, LQT9 |
| 1 | SERKAL | WNT4, SERKAL |
| 1 | ARB | BEST1, VMD2, ARB, RP50 |
| 1 | EL1 | EPB41, EL1 |
| 1 | AAT6 | ACTA2, ACTSA, AAT6, MYMY5 |
| 1 | ECYT4 | EPAS1, MOP2, HIF2A, ECYT4 |
| 1 | BRUGADA SYNDROME 2 | GPD1L, KIAA0089 |
| 1 | KAWASAKI DISEASE | ITPKC |
| 1 | HANAC | COL4A1 |
| 1 | LPG | APOE, AD2, LPG, LDLCQ5 |
| 1 | FCAS2 | NALP12, PYPAF7, RNO, FCAS2 |
| 1 | LCA10 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
| 1 | SHEP9 | ASIP, AGTIL, SHEP9 |
| 1 | EPM3 | KCTD7, EPM3 |
| 1 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | PSAP, SAP1 |
| 1 | COMBINED SAPOSIN DEFICIENCY | PSAP, SAP1 |
| 1 | COXPD5 | MRPS22, C3orf5, COXPD5 |
| 1 | HOMG4 | EGF, URG, HOMG4 |
| 1 | MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | SHEP7 | KITLG, MGF, SF, SCF, SHEP7 |
| 1 | MCOPCB5 | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | CMD1X | FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 |
| 1 | LIS3 | TUBA1A, TUBA3, LIS3 |
| 1 | CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 | BFSP2, CP49, CP47 |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA | SLC4A1, AE1, EPB3 |
| 1 | LGMD2M | FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 |
| 1 | WS2E | SOX10, WS4, WS4C, PCWH |
| 1 | MKS5 | RPGRIP1L, KIAA1005, JBTS7, MKS5 |
| 1 | JBTS7 | RPGRIP1L, KIAA1005, JBTS7, MKS5 |
| 1 | GLYCOGEN STORAGE DISEASE 0, MUSCLE | GYS1, GYS |
| 1 | LEOPARD SYNDROME 2 | RAF1, CRAF, NS5 |
| 1 | NS5 | RAF1, CRAF, NS5 |
| 1 | POF5 | NOBOX, POF5 |
| 1 | CATCN3 | CRYBB1, CATCN3 |
| 1 | ARVD12 | JUP, DP3, PDGB, ARVD12 |
| 1 | PCH6 | RARS2, RARSL, PCH6 |
| 1 | TYROSINE KINASE 2 DEFICIENCY | TYK2 |
| 1 | NPHP7 | GLIS2, NPHP7 |
| 1 | OPTB6 | PLEKHM1, AP162, KIAA0356, OPTB6 |
| 1 | ATFB4 | KCNE2, MIRP1, LQT6, ATFB4 |
| 1 | OPTB4 | CLCN7, CLC7, OPTA2, OPTB4 |
| 1 | CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY | CBG, SERPINA6 |
| 1 | ARMD10 | TLR4, ARMD10 |
| 1 | GALLBLADDER DISEASE 4 | ABCG8, GBD4 |
| 1 | DFNB63 | LRTOMT, LRTOMT1, LRTOMT2, DFNB63 |
| 1 | LEGIUS SYNDROME | SPRED1, NFLS |
| 1 | CMD1W | VCL, CMD1W, CMH15 |
| 1 | CATARACT, CORTICAL, JUVENILE-ONSET | BFSP1, CP115 |
| 1 | USH2D | WHRN, CIP98, KIAA1526, DFNB31, USH2D |
| 1 | ARMD9 | C3, ARMD9, AHUS5 |
| 1 | BDB2 | NOG, SYM1, SYNS1 |
| 1 | LCCS3 | PIP5K1C, LCCS3 |
| 1 | ASD4 | TBX20, ASD4 |
| 1 | LGMD2L | ANO5, TMEM16E, GDD1, LGMD2L |
| 1 | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION | NHEJ1, XLF |
| 1 | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | ACAD8 |
| 1 | FEB8 | GABRG2, GEFSP3, CAE2, ECA2 |
| 1 | ATD2 | IFT80, KIAA1374, WDR56, ATD2 |
| 1 | CMT4J | FIG4, KIAA0274, SAC3, ALS11 |
| 1 | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE | ERLIN2, SPFH2, C8orf2, SPG18 |
| 1 | CDG2G | COG1, LDLB, KIAA1381, CDG2G |
| 1 | CDG2H | COG8, DOR1, CDG2H |
| 1 | EJM5 | GABRA1, EJM5, ECA4 |
| 1 | MKS4 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
| 1 | RP37 | NR2E3, PNR, ESCS, RP37 |
| 1 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF | ACAD9 |
| 1 | LBSL | DARS2, ASPRS. LBSL |
| 1 | MRT7 | TUSC3, M33, D8S1992, MRT7, MRT22 |
| 1 | MRT6 | GRIK2, GLUR6, MRT6 |
| 1 | MRT12 | ST3GAL3, SIAT6, ST3GALII, MRT12 |
| 1 | PMSE | STRADA, STRAD, LYK5 |
| 1 | IBD10 | ATG16L1, APG16L, IBD10 |
| 1 | DSMA4 | PLEKHG5, KIAA0720, DSMA4 |
| 1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 | IRAK3, IRAKM, ASRT5 |
| 1 | MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN | MFRP, MCOP5 |
| 1 | MCOP3 | RAX, RX, MCOP3 |
| 1 | DFNB24 | RDX, DFNB24 |
| 1 | AUTS10 | EN2, AUTS10 |
| 1 | AUTS9 | MET, AUTS9 |
| 1 | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | PSAT1, PSAT, EPIP |
| 1 | LEPROSY, SUSCEPTIBILITY TO, 4 | LTA, TNFB |
| 1 | COMPLEMENT FACTOR I DEFICIENCY | CFI, FI, AHUS3 |
| 1 | CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS | NKX2-1, TITF1, NKX2A, TTF1 |
| 1 | XFE PROGEROID SYNDROME | ERCC4, XPF |
| 1 | PTHS | TCF4, SEF2, ITF2, PTHS |
| 1 | CLN7 | MFSD8, MGC33302, CLN7 |
| 1 | ADCAD2 | LRP6, ADCAD2 |
| 1 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 | CD36, CHDS7, BDPLT10 |
| 1 | SLEB9 | CR2, C3DR, SLEB9 |
| 1 | SMDP3 | ABCA3, ABC3, SMDP3 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE VIII | LEPRE1, P3H1, GROS1, OI8 |
| 1 | SMDP2 | SFTPC, SFTP2, SMDP2 |
| 1 | BOR2 | SIX5, DMAHP, BOR2 |
| 1 | VUR2 | ROBO2, SAX3, KIAA1568 |
| 1 | CILD6 | TXNDC3, SPTRX2, CILD6 |
| 1 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | GGCX |
| 1 | FANCONI ANEMIA, COMPLEMENTATION GROUP N | PALB2, FANCN, PNCA3 |
| 1 | HPE9 | GLI2, HPE9 |
| 1 | HPE7 | PTCH1, NBCCS, BCNS, HPE7 |
| 1 | IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN | MAPBPIP, p14 |
| 1 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | SLC25A3, PHC |
| 1 | CDG1M | TMEM15, DK1, SEC59, KIAA1094, CDG1M |
| 1 | ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE | ST14, MTSP1 |
| 1 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | SCARB1, CD36L1, CLA1, HDLQTL6 |
| 1 | CDLS3 | CSPG6, SMC3, HCAP, BAM, CDLS3 |
| 1 | COFS4 | ERCC1, UV20, COFS4 |
| 1 | COFS2 | ERCC2, EM9, XPD, COFS2 |
| 1 | MEN4 | CDKN1B, KIP1, CDKN4, MEN4 |
| 1 | SCAR8 | SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 |
| 1 | SCN3 | HAX1, SCN3 |
| 1 | NS4 | SOS1, GINGF, GF1, HGF, NS4 |
| 1 | NPHS3 | PLCE1, KIAA1516, NPHS3 |
| 1 | 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 | JBTS6 | TMEM67, MKS3, JBTS6, NPHP11 |
| 1 | NEM7 | CFL2, NEM7 |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE VII | CRTAP, CASP, OI7 |
| 1 | COXPD4 | TUFM, EFTU, COXPD4 |
| 1 | XPB | ERCC3, XPB |
| 1 | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL | RSPO1, FLJ40906 |
| 1 | DIAMOND-BLACKFAN ANEMIA 3 | RPS24, DBA3 |
| 1 | KAL4 | PROK2, PK2, BV8, KAL4 |
| 1 | CTPP4 | PITX3, CTPP4 |
| 1 | HAE III | F12, HAF, HAE3 |
| 1 | LCA12 | RD3, LCA12, C1orf36 |
| 1 | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | CYP11B2 |
| 1 | RP36 | PRCD, RP36 |
| 1 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 1 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 | UNC93B1 |
| 1 | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | INSR, HHF5 |
| 1 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | PSAP, SAP1 |
| 1 | LEUKODYSTROPHY, HYPOMYELINATING, 5 | FAM126A, DRCTNNB1A, HLD5 |
| 1 | MODY7 | KLF11, TIEG2, FKLF1, FKLF, MODY7 |
| 1 | COXPD3 | TSFM, COXPD3 |
| 1 | PPROM | SERPINH2, PPROM, CBP2, CBP1, OI10 |
| 1 | COXPD2 | MRPS16, COXPD2 |
| 1 | PPNAD1 | PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ADOHR |
| 1 | RCD4 | CACNA2D4, RCD4 |
| 1 | ARVD11 | DSC2, DSC3, ARVD11 |
| 1 | PPNAD2 | PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 |
| 1 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | FGFR3, ACH |
| 1 | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY | TPMT |
| 1 | NFTC | SAMD9, NFTC |
| 1 | CHBL | TREX1, AGS1, CRV, HERNS |
| 1 | BURULI ULCER, SUSCEPTIBILITY TO | NRAMP1, NRAMP, SLC11A1 |
| 1 | CSNBAD1 | RHO, RP4, OPN2, CSNBAD1 |
| 1 | CSNBAD3 | GNAT1, CSNBAD3 |
| 1 | TESTICULAR MICROLITHIASIS | SLC34A2 |
| 1 | CSNB2B | CABP4, CSNB2B |
| 1 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 4 | CRYBA4, MCOPCT4 |
| 1 | CATARACT, LAMELLAR 2 | CRYBA4, MCOPCT4 |
| 1 | CORD11 | RAXL1, QRX, CORD11, ARMD6 |
| 1 | LDS2B | TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B |
| 1 | WEST NILE VIRUS, SUSCEPTIBILITY TO | CCR5, CMKBR5, CCCKR5, IDDM22 |
| 1 | MEVALONIC ACIDURIA | MVK, MVLK |
| 1 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | DIAR4 | NEUROG3, NGN3, ATOH5 |
| 1 | RP33 | SNRNP200, ASCC3L1, KIAA0788, RP33 |
| 1 | SPG30 | KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 |
| 1 | RCD3B | KCNV2, KV11.1, RCD3B |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4 | CHRNA2 |
| 1 | AGS4 | RNASEH2A, RNHIA, AGS4 |
| 1 | AGS3 | RNASEH2C, AYP1, FLJ20974, AGS3 |
| 1 | CISS2 | CLCF1, BSF3, CLC |
| 1 | PARK13 | HTRA2, OMI, PARK13, PRSS25 |
| 1 | GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY | PIGM |
| 1 | CORD10 | SEMA4A, SEMB, RP35, CORD10 |
| 1 | RP35 | SEMA4A, SEMB, RP35, CORD10 |
| 1 | DFNB67 | LHFPL5, TMHS, DFNB67 |
| 1 | APHAKIA, CONGENITAL PRIMARY | FOXE3, FKHL12, ASMD |
| 1 | CHROMOSOME 9q34.3 DELETION SYNDROME | EHMT1, EUHMTASE1, DEL9q34 |
| 1 | ALCOHOL SENSITIVITY, ACUTE | ALDH2 |
| 1 | SPG31 | REEP1, C2ORF23, SPG31 |
| 1 | SCA28 | AFG3L2, SCA28 |
| 1 | SCA23 | PDYN, SCA23 |
| 1 | SPG33 | ZFYVE27, SPG33 |
| 1 | SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS | ZNF750, FLJ13841 |
| 1 | DFNB59 | PJVK, DFNB59 |
| 1 | NBIA2 | PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 |
| 1 | ALGS2 | NOTCH2, AGS2, HJCYS |
| 1 | DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM | GLIS3, ZNF515 |
| 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE V | DNAJC19, TIM14 |
| 1 | ARVD10 | DSG2, ARVD10, ARVC10, CMD1BB |
| 1 | SLSN6 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
| 1 | JBTS5 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
| 1 | DIAPHRAGMATIC HERNIA 3 | ZFPM2, FOG2, DIH3 |
| 1 | AGS2 | RNASEH2B, DLEU8, FLJ11712, AGS2 |
| 1 | LDS1B | TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B |
| 1 | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA | CD247, CD3Z, TCRZ |
| 1 | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS | INPP5E, MORMS, JBTS1, CORS1 |
| 1 | DFNB49 | MARVELD2, MARVD2, TRIC, DFNB49 |
| 1 | ARMD7 | HTRA1, PRSS11, ARMD7 |
| 1 | HEART-HAND SYNDROME, SLOVENIAN TYPE | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | PEOA4 | POLG2, POLGB, PEOA4 |
| 1 | CLN10 | CTSD, CPSD, CLN10 |
| 1 | MCOPS5 | OTX2, MCOPS5, CPHD6 |
| 1 | COMPLEMENT COMPONENT 7 DEFICIENCY | C7 |
| 1 | MCOP2 | CHX10, HOX10, MCOP2, MCOPCB3 |
| 1 | MCOPCB3 | CHX10, HOX10, MCOP2, MCOPCB3 |
| 1 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | PNPO |
| 1 | HMPS2 | BMPR1A, ACVRLK3, ALK3 |
| 1 | OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 | ME2, ODS1 |
| 1 | CSCD | DCN, CSCD |
| 1 | CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 |
| 1 | POLYMICROGYRIA, ASYMMETRIC | TUBB2B |
| 1 | RCD3A | PDE6H, RCD3 |
| 1 | HHF7 | SLC16A1, MCT1, HHF7 |
| 1 | CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 | FYCO1, CATC2 |
| 1 | SYNS2 | GDF5, CDMP1, SYNS2, OS5 |
| 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 | HHF4 | HADHSC, SCHAD, HHF4 |
| 1 | HHF5 | INSR, HHF5 |
| 1 | NOONAN SYNDROME 3 | KRAS, KRAS2, RASK2, NS |
| 1 | SLEB6 | ITGAM, CR3A, CD11B, MAC1A, SLEB6 |
| 1 | AMINOACYLASE 1 DEFICIENCY | ACY1, ACY1D |
| 1 | RP31 | TOPORS, P53BP3, LUN, RP31 |
| 1 | CMD1P | PLN, PLB, CMD1P, CMH18 |
| 1 | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | RAG1 |
| 1 | GLC1G | WDR36, TAWDRP, GLC1G |
| 1 | GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA | UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 |
| 1 | DFNB28 | TRIOBP, KIAA1662 |
| 1 | BLEEDING DISORDER DUE TO P2RY12 DEFECT | P2RY12, P2Y12, BDPLT8 |
| 1 | ERYTHROCYTOSIS, FAMILIAL, 3 | EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3 |
| 1 | COMPLEMENT FACTOR H DEFICIENCY | HF1, CFH, HUS, ARMD4, AHUS1 |
| 1 | SCDO3 | LFNG, SCDO3 |
| 1 | MODY8 | CEL, BSSL, CELL, MODY8 |
| 1 | PEELING SKIN SYNDROME, ACRAL TYPE | TGM5, TGX |
| 1 | CELIAC3 | CTLA4, IDDM12, CELIAC3, GRD4 |
| 1 | CELIAC4 | MYO9B, MYR5, CELIAC4 |
| 1 | CATCN2 | CRYBB3, CRYB3, CATCN2 |
| 1 | PROOPIOMELANOCORTIN DEFICIENCY | POMC |
| 1 | DFNB53 | COL11A2, STL3, DFNA13, DFNB53 |
| 1 | THYROID HORMONE METABOLISM, ABNORMAL | SECISBP2, SBP2 |
| 1 | DFNB42 | ILDR1, DFNB42 |
| 1 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | DSP, KPPS2, PPKS2 |
| 1 | HPE5 | ZIC2, HPE5 |
| 1 | FHM3 | SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 |
| 1 | MAJEED SYNDROME | LPIN2 |
| 1 | SQT3 | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 |
| 1 | SQT2 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 |
| 1 | SQT1 | KCNH2, LQT2, HERG, SQT1 |
| 1 | PFM2 | ALX4, PFM2, FPP, FND2 |
| 1 | JBTS4 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | FGFR2, BEK, CFD1, JWS |
| 1 | MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM | TK2, MTDPS2 |
| 1 | COMPLEMENT COMPONENT 5 DEFICIENCY | C5 |
| 1 | DRUG METABOLISM, POOR, CYP2C19-RELATED | CYP2C, CYP2C19 |
| 1 | DFNB23 | PCDH15, DFNB23, USH1F |
| 1 | IGAD2 | TNFRSF13B, TACI, CVID2 |
| 1 | CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME | SNAP29, CEDNIK |
| 1 | FILAMINOPATHY, AUTOSOMAL DOMINANT | FLNC, FLN2, ABPA, ABPL, MFM5, MPD4 |
| 1 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | COL2A1 |
| 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, CMD1C, LVNC3 |
| 1 | GEPD | KCNMA1, SLO |
| 1 | CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES | BMPR1B, ALK6 |
| 1 | PEE4 | STOX1, PEE4 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA | KRT5, DDD |
| 1 | CAROTID INTIMAL MEDIAL THICKNESS 1 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 |
| 1 | RDT | SMARCB1, SNF5, INI1, RDT, RTPS1 |
| 1 | CMT4H | FGD4, FRABIN, CMT4H |
| 1 | HNPCC2 | MLH1, COCA2, HNPCC2 |
| 1 | LGMD2K | POMT1, MDDGA1, MDDGB1, MDDGC1 |
| 1 | SCA27 | FGF14, FHF4, SCA27 |
| 1 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 | SLC25A22, GC1, EIEE3 |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3 | C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7 |
| 1 | NEM4 | TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 |
| 1 | NEM1 | TPM3, NEM1, CFTD |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 | SLC25A4, ANT1, T1, PEO3, PEO2 |
| 1 | NEM6 | KBTBD13, NEM6 |
| 1 | LFS2 | CHEK2, RAD53, CHK2, CDS1, LFS2 |
| 1 | CMT2A2 | MFN2, KIAA0214, CMT2A2 |
| 1 | SLSN5 | IQCB1, NPHP5, KIAA0036 |
| 1 | KANZAKI DISEASE | NAGA |
| 1 | SCHINDLER DISEASE, TYPE I | NAGA |
| 1 | GS3 | MLPH |
| 1 | BRUCK SYNDROME 2 | PLOD2, LH2, TLH |
| 1 | MYOTILINOPATHY | TTID, MYOT |
| 1 | LDS1A | TGFBR1, ALK5, AAT5, LDS2A, LDS1A, MSSE |
| 1 | CDG1F | MPDU1, SL15, CDGIF |
| 1 | ERYTHROKERATODERMA, RETICULAR | KRT10, EHK, BCIE, BIE |
| 1 | CZECH DYSPLASIA, METATARSAL TYPE | COL2A1 |
| 1 | ADSD | PDE8B, PPNAD3, ADSD |
| 1 | HYPERTHYROIDISM, NONAUTOIMMUNE | TSHR, CHNG1 |
| 1 | MALARIA, MILD, SUSCEPTIBILITY TO | NCR3, 1C7, NKP30, CD337, MALS |
| 1 | PPCD3 | ZEB1, TCF8, NIL2A, PPCD3, FECD6 |
| 1 | PPCD2 | COL8A2, FECD1, PPCD2 |
| 1 | PCWH | SOX10, WS4, WS4C, PCWH |
| 1 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS | PTF1A |
| 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 | FANCI | FANCI, KIAA1794 |
| 1 | PIERSON SYNDROME | LAMB2, LAMS, NPHS5 |
| 1 | CMM3 | CDK4, CMM3 |
| 1 | ARVD9 | PKP2, ARVD9 |
| 1 | AXPC1 | FLVCR1, AXPC1, PCARP |
| 1 | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | HADHA, MTPA |
| 1 | DFNB36 | ESPN |
| 1 | POF3 | FOXL2, BPES, BPES1, PFRK, POF3 |
| 1 | CCA3 | CRYGD, CRYG4, CCP |
| 1 | BNAR | FREM1, C9orf154, BNAR, MOTA |
| 1 | MEACHAM SYNDROME | WT1, NPHS4 |
| 1 | LDS2A | TGFBR1, ALK5, AAT5, LDS2A, LDS1A, MSSE |
| 1 | CD8 DEFICIENCY, FAMILIAL | CD8A |
| 1 | DRUG METABOLISM, POOR, CYP2D6-RELATED | CYP2D6, CPD6, P450DB1 |
| 1 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 | KALRN, HAPIP, DUO, CHDS5 |
| 1 | FHL3 | UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 |
| 1 | ARMD3 | FBLN5, ARMD3 |
| 1 | WAARDENBURG SYNDROME, TYPE IID | SNAI2, SLUG, WS2D |
| 1 | OFC5 | MSX1, HOX7, HYD1, OFC5, STHAG1 |
| 1 | OFC6 | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D | LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 |
| 1 | CARNEY COMPLEX VARIANT | MYH8 |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2, IIAE4 |
| 1 | CRCS1 | GALNT12, CRCS1 |
| 1 | ALPHA-B CRYSTALLINOPATHY | CRYAB, CRYA2, CTPP2 |
| 1 | DTGA1 | MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025 |
| 1 | LGMD2J | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY | COL2A1 |
| 1 | LEUKODYSTROPHY, HYPOMYELINATING, 2 | GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C |
| 1 | SIDDT | TSPYL1, TSPYL, SIDDT |
| 1 | CDG1E | DPM1, MPDS, CDGIE |
| 1 | PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY | PDP1, PPM2C, PDP1, PDPC |
| 1 | CDG2E | COG7, CDG2E |
| 1 | CDG1L | ALG9, DIBD1, CDG1L |
| 1 | IS3 | CHD7, IS3, KAL5 |
| 1 | CMH10 | MYL2, CMH10 |
| 1 | CMH8 | MYL3, CMH8 |
| 1 | INSULIN-LIKE GROWTH FACTOR I DEFICIENCY | IGF1 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED | MATN3, EDM5, HOA, OS2 |
| 1 | MCPH5 | ASPM, MCPH5 |
| 1 | BARRAQUER-SIMONS SYNDROME | LMNB2, LMN2 |
| 1 | AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY | ATIC, PURH, AICAR |
| 1 | SCDO2 | MESP2, SCDO2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A |
| 1 | HSAN5 | NGFB, HSAN5 |
| 1 | IPS | SLC27A4, FATP4, IPS |
| 1 | CILD3 | DNAH5, HL1, PCD, CILD3 |
| 1 | AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | DDC |
| 1 | DFNA28 | GRHL2, TFCP2L3, DFNA28 |
| 1 | HMN2B | HSPB1, HSP27, CMT2F, HMN2B |
| 1 | JBTS3 | AHI1 |
| 1 | ALS8 | VAPB, VAPC, ALS8 |
| 1 | HYPERTENSION, DIASTOLIC, RESISTANCE TO | KCNMB1 |
| 1 | OLIGODONTIA-COLORECTAL CANCER SYNDROME | AXIN2 |
| 1 | MADB | ZMPSTE24, FACE1, STE24, MADB |
| 1 | RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | RPIA, RPI |
| 1 | CGL1 | AGPAT2, LPAAB, BSCL, BSCL1 |
| 1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 | NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2 |
| 1 | CMD1O | ABCC9, SUR2, CMD1O, ATFB12 |
| 1 | SSS1 | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | DFNB35 | ESRRB, ESRL2, DFNB35 |
| 1 | LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO | TLR5, TIL3, SLEB1 |
| 1 | CDG1K | ALG1, HMAT1, HMT1, CDG1K |
| 1 | CDL3A | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | CDB1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE | MUTYH, MYH |
| 1 | KNOBLOCH SYNDROME, TYPE II | ADAMTS18, KNO2 |
| 1 | MRT3 | CC2D1A, MRT3 |
| 1 | PLATELET GLYCOPROTEIN IV DEFICIENCY | CD36, CHDS7, BDPLT10 |
| 1 | MCPH6 | CENPJ, CPAP, MCPH6, SCKL4 |
| 1 | MYOTONIA, POTASSIUM-AGGRAVATED | SCN4A, HYPP, NAC1A, HOKPP2 |
| 1 | BOS3 | SIX1, BOS3, DFNA23 |
| 1 | RP26 | CERKL, RP26 |
| 1 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE | ACAN, AGC1, CSPG1, MSK16, SEDK |
| 1 | MYOPATHY, MYOSIN STORAGE | MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD |
| 1 | PARKES WEBER SYNDROME | RASA1, GAP, CMAVM, PKWS |
| 1 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION | RASA1, GAP, CMAVM, PKWS |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A | GDAP1, CMT4A, CMT2K, CMTRIA |
| 1 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | YARS, CMTDIC, TYRRS, YTS, YRS |
| 1 | ADCAD1 | MEF2A, ADCAD1 |
| 1 | PARATHYROID CARCINOMA | HRPT2, C1orf28 |
| 1 | DFNB39 | HGF, DFNB39 |
| 1 | SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT | ARHGEF10, KIAA0294 |
| 1 | HPS2 | AP3B1, ADTB3A, HPS2 |
| 1 | CML | BCR, CML, PHL, ALL |
| 1 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | RAC2 |
| 1 | CORD13 | RPGRIP1, LCA6, CORD13 |
| 1 | TROPICAL CALCIFIC PANCREATITIS | SPINK1, PSTI, PCTT, TATI, TCP |
| 1 | SPD2 | FBLN1 |
| 1 | RP7 | PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2 |
| 1 | OVARIAN HYPERSTIMULATION SYNDROME | FSHR, ODG1 |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 | UNG, DGU, HIGM4 |
| 1 | CDG1H | ALG8, CDG1H |
| 1 | LGMD2D | SGCA, ADL, DAG2, LGMD2D, DMDA2 |
| 1 | HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE | ARFGEF2, BIG2, PVNH2 |
| 1 | CDG1J | DPAGT2, DGPT, CDG1J |
| 1 | JBTS2 | TMEM216, JBTS2, CORS2, MKS2 |
| 1 | MCDR2 | PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 |
| 1 | ANE1 | RANBP2, NUP358, ANE1, IIAE3 |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS 6 | FUS, TLS, ALS6 |
| 1 | DIAPHANOSPONDYLODYSOSTOSIS | BMPER, CV2 |
| 1 | GAUCHER DISEASE, PERINATAL LETHAL | GBA |
| 1 | COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA | ACP5, SPENCDI |
| 1 | ASD2 | GATA4, ASD2 |
| 1 | EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE | CSTA, STFA, STF1, AREI |
| 1 | MCOPS6 | BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 |
| 1 | RP30 | FSCN2, RFSN, RP30 |
| 1 | CDG1I | ALG2, CDGII |
| 1 | LAH1 | DSG4, LAH |
| 1 | CAUDAL DUPLICATION ANOMALY | AXIN1, AXIN |
| 1 | MDC1A | LAMA2, LAMM |
| 1 | OS3 | ASPN, PLAP1, OS3 |
| 1 | NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS | GFI1, ZNF163, SCN2 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A | MYO1A, DFNA48 |
| 1 | AIS1 | FOXD3, AIS1, VAMAS2 |
| 1 | NEUROTICISM | SLC6A4, HTT, OCD1 |
| 1 | FSGS3 | CD2AP, CMS |
| 1 | CMT2K | GDAP1, CMT4A, CMT2K, CMTRIA |
| 1 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | SOX18, HLTS |
| 1 | ALZHEIMER DISEASE 3 | PSEN1, AD3 |
| 1 | DFNB37 | MYO6, DFNA22, DFNB37 |
| 1 | CLSD | SEC23A, CLSD |
| 1 | LGMD1C | CAV3, LGMD1C, LQT9 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | ACFD | IHH, BDA1 |
| 1 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 | HSD3B7, PFIC4 |
| 1 | BFIC3 | SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS |
| 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 | NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR | SHOC2, SIAA0862, SOC2, SUR8 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | GDAP1, CMT4A, CMT2K, CMTRIA |
| 1 | LEUKODYSTROPHY, DYSMYELINATING, WITH OLIGODONTIA | POLR3A, RPC1, RPC155, ADDH, HLD7 |
| 1 | PARK11 | GIGYF2, KIAA0642, PARK11 |
| 1 | HES | PDGFRA |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E | NEFL, CMT2E, CMT1F |
| 1 | EIG9 | CACNB4, EJM6, EA5, EIG9 |
| 1 | ECA2 | GABRG2, GEFSP3, CAE2, ECA2 |
| 1 | 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 | PPKS3 | KRT1, EPPK, NEPPK, EHK |
| 1 | HMN7B | DCTN1, HMN7B |
| 1 | VAN BUCHEM DISEASE, TYPE 2 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | OPTA1 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | EJA1 | EFHC1, FLJ10466, EJM1, JAE, EJA1 |
| 1 | EIG11 | CLCN2, EGMA, ECA2, EGI11, EJM8 |
| 1 | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | CLDN1, SEMP1, ILVASC |
| 1 | NIEMANN-PICK DISEASE, TYPE C2 | NPC2, HE1 |
| 1 | GS2 | RAB27A, RAM, GS2 |
| 1 | NIEMANN-PICK DISEASE, TYPE B | SMPD1, NPD |
| 1 | LCCS2 | ERBB3, LCCS2 |
| 1 | PONTOCEREBELLAR HYPOPLASIA TYPE 1 | VRK1, PCH1 |
| 1 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | COL4A1 |
| 1 | ICOS DEFICIENCY | ICOS, AILIM, CVID1 |
| 1 | LEPROSY, SUSCEPTIBILITY TO, 2 | PRKN, PARK2, PDJ, LPRS2 |
| 1 | ATFB3 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 |
| 1 | CDA | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | TOENAIL DYSTROPHY, ISOLATED | COL7A1 |
| 1 | BULN1 | BDNF |
| 1 | CMD1N | TCAP, LGMD2G, CMD1N |
| 1 | KN | CR1, C3BR |
| 1 | FTLDU | GRN |
| 1 | BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE | SLC19A3 |
| 1 | CMD1M | CSRP3, CRP3, CLP, CMD1M, CMH12 |
| 1 | NFRCD | RLBP1 |
| 1 | BOTHNIA RETINAL DYSTROPHY | RLBP1 |
| 1 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | VKORC1, VKOR, VKCFD2, FLJ00289 |
| 1 | THYROID CARCINOMA, HURTHLE CELL | NDUFA13, GRIM19 |
| 1 | SANDO | POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS |
| 1 | GIL BLOOD GROUP | AQP3 |
| 1 | DFNA44 | CCDC50, C3orf6, DFNA44 |
| 1 | ARVD8 | DSP, KPPS2, PPKS2 |
| 1 | BMIQ4 | UCP2, BMIQ4 |
| 1 | LIS1 | PAFAH1B1, LIS1 |
| 1 | MRT2 | CRBN, MRT2 |
| 1 | GCCD2 | MRAP, FALP, C21orf61, GCCD2, FGD2 |
| 1 | DYSTONIA, JUVENILE-ONSET | ACTB |
| 1 | BARTTER SYNDROME, TYPE 3 | CLCNKB |
| 1 | MKS3 | TMEM67, MKS3, JBTS6, NPHP11 |
| 1 | FCDT | TSC1, LAM |
| 1 | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 | CX3CR1, GPR13, V28 |
| 1 | LATHOSTEROLOSIS | SC5DL, ERG3 |
| 1 | SMC | DYM, FLJ90130, DMC, SMC |
| 1 | DRRS | SALL4, HSAL4 |
| 1 | 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 | SPG7 | PGN, SPG7, CMAR, CAR |
| 1 | SCAN1 | TDP1 |
| 1 | HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION | PANK2, NBIA1, PKAN, HARP |
| 1 | IAHSP | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | TDH6 | DUOX2, THOX2, TDH6 |
| 1 | MCPHA | SLC25A19, DNC, MUP1, MCPHA |
| 1 | LGMD2I | FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 |
| 1 | ALLERGIC RHINITIS | IL13, ALRH, BHR1 |
| 1 | MYMY2 | RNF213, ALO17, KIAA1618, MYMY2 |
| 1 | CDG1G | ALG12, CDG1G |
| 1 | SCA17 | TBP, SCA17, HDL4 |
| 1 | CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES | CRYBB2, CRYB2 |
| 1 | CINCA | NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | NASOPHARYNGEAL CARCINOMA | TP53, P53, LFS1 |
| 1 | DFNB30 | MYO3A, DFNB30 |
| 1 | ANAUXETIC DYSPLASIA | RMRP, RMRPR, CHH |
| 1 | CDG2D | B4GALT1, GGTB2, GT1, GTB, CDG2D |
| 1 | DFNB31 | WHRN, CIP98, KIAA1526, DFNB31, USH2D |
| 1 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | DHH, SRXY7, GDXYM |
| 1 | EDM5 | MATN3, EDM5, HOA, OS2 |
| 1 | PARK8 | LRRK2, PARK8 |
| 1 | DFNB22 | OTOA, DFNB22 |
| 1 | SCHEIE SYNDROME | IDUA, IDA |
| 1 | HURLER-SCHEIE SYNDROME | IDUA, IDA |
| 1 | HURLER SYNDROME | IDUA, IDA |
| 1 | SLSN4 | NPHP4, SLSN4 |
| 1 | NPHP4 | NPHP4, SLSN4 |
| 1 | OCA1B | TYR, SHEP3, CMM8 |
| 1 | USH1G | SANS, USH1G |
| 1 | SCAR5 | ZNF592, KIAA0211, SCAR5, CAMOS |
| 1 | ALZHEIMER DISEASE 4 | PSEN2, AD4, STM2, CMD1V |
| 1 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | PALLD, KIAA0992, PNCA1 |
| 1 | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | GPR56, TM7XN1, BFPP |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 | CD40, TNFRSF5 |
| 1 | GGM | SLC5A1, SGLT1 |
| 1 | FUMARASE DEFICIENCY | FH, HLRCC, MCUL1 |
| 1 | STROKE, SUSCEPTIBILITY TO, 1 | PDE4D, DPDE3, STRK1 |
| 1 | BLEPHAROSPASM, BENIGN ESSENTIAL | DRD5, DRD1B, DRD1L2 |
| 1 | CRIGLER-NAJJAR SYNDROME, TYPE II | UGT1A1, UGT1, GNT1, BILIQTL1 |
| 1 | GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER | SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS |
| 1 | DMAT | DYSF, LGMD2B, MMD1 |
| 1 | HHF6 | GLUD1 |
| 1 | MELANOMA-PANCREATIC CANCER SYNDROME | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | VAN DER WOUDE SYNDROME 2 | WDR65, VWS2 |
| 1 | DFNA36 | TMC1, DFNB7, DFNB11, DFNA36 |
| 1 | KRS | ATP13A2, PARK9, KRPPD |
| 1 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | PRNP, PRIP |
| 1 | CMD1L | SGCD, SGD, LGMD2F, CMD1L |
| 1 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | GNMT |
| 1 | SCA15 | ITPR1, SCA15, SCA16 |
| 1 | MDC1C | FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | HSPB1, HSP27, CMT2F, HMN2B |
| 1 | LIG4 SYNDROME | LIG4 |
| 1 | VAMAS1 | NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1 |
| 1 | OCA4 | SLC45A2, MATP, AIM1, SHEP5 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B | DNM2, CMTDIB, CMTDI1, CMT2M |
| 1 | HDL2 | JPH3, JP3, HDL2 |
| 1 | EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY | TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3 |
| 1 | MODY6 | NEUROD1, NIDDM |
| 1 | MODY4 | IPF1, MODY4 |
| 1 | EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE | MAPK10, PRKM10, JNK3 |
| 1 | INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF | IL2RA, IL2R, IDDM10 |
| 1 | PLSJ | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | DFNA22 | MYO6, DFNA22, DFNB37 |
| 1 | PARK7 | DJ1, PARK7 |
| 1 | ASPS | ASPSCR1, RCC17, ASPL, ASPS |
| 1 | CHROMOSOME 22q13.3 DELETION SYNDROME | SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 |
| 1 | AVSD2 | CRELD1, AVSD2 |
| 1 | BASAL GANGLIA DISEASE, ADULT-ONSET | FTL, NBIA3 |
| 1 | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | MPD2 | MATR3, MPD2 |
| 1 | HFE4 | SLC40A1, SLC11A3, FPN1, IREG1, HFE4 |
| 1 | RP28 | FAM161A, RP28 |
| 1 | CDG2B | GCS1, CDG2B |
| 1 | TRANSALDOLASE DEFICIENCY | TALDO1 |
| 1 | SCAR1 | SETX, SCAR1, AOA2, ALS4 |
| 1 | NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO | ZNF365, UAN |
| 1 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY | HMGCS2 |
| 1 | PARK6 | PINK1, PARK6 |
| 1 | DMGDHD | DMGDH, DMGDHD |
| 1 | NM | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | SLC25A13, CTLN2 |
| 1 | ATOD2 | FLG, ATOD2 |
| 1 | FANCD1 | BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 |
| 1 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED | APP, AAA, CVAP, AD1 |
| 1 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME | NFU1, HIRIP, MMDS1 |
| 1 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA | DSP, KPPS2, PPKS2 |
| 1 | LORD | C1QTNF5, CTRP5, LORD |
| 1 | IBM3 | MYH2 |
| 1 | PSORS7 | IL23R, IBD17 |
| 1 | DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | CMT2B2 | MED25, PTOV2, ARC92, CMT2B2 |
| 1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | DFNA25 | SLC17A8, VGLUT3, DFNA25 |
| 1 | ABDOMINAL OBESITY-METABOLIC SYNDROME | MTP |
| 1 | PARK4 | SNCA, NACP, PARK1, PARK4 |
| 1 | BRIC2 | ABCB11, BSEP, SPGP, PFIC2, BRIC2 |
| 1 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA | HOXA11, HOX1I |
| 1 | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | TH, TYH |
| 1 | HYPOTRICHOSIS SIMPLEX | APCDD1, HHS, HTS |
| 1 | CTPP3 | CHMP4B, SNF7, CTPP3 |
| 1 | HETEROTAXY, VISCERAL, 2, AUTOSOMAL | CFC1, CRYPTIC, HTX2, DTGA2 |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 | CHRNB2, EFNL3 |
| 1 | PGL3 | SDHC, PGL3 |
| 1 | CMD1J | EYA4, DFNA10, CMD1J |
| 1 | SCA14 | PRKCG, PKCC, PKCG, SCA14 |
| 1 | NEM5 | TNNT1, ANM |
| 1 | DFNB10 | TMPRSS3, ECHOS1, DFNB8, DFNB10 |
| 1 | MACROCEPHALY/AUTISM SYNDROME | PTEN, MMAC1, GLM2 |
| 1 | SHFM4 | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | CHSY1, KIAA0990, TPBS |
| 1 | SPG13 | HSPD1, SPG13, HSP60, HLD4 |
| 1 | SCA13 | KCNC3, SCA13 |
| 1 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 | AICDA, AID, HIGM2 |
| 1 | SBS | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | SLEB2 | PDCD1, SLEB2 |
| 1 | DFNA23 | SIX1, BOS3, DFNA23 |
| 1 | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY | NR3C2, MLR, MCR |
| 1 | BSS | CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS |
| 1 | C-LIKE SYNDROME | ASXL1, KIAA0978, BOPS, MDS |
| 1 | MYOCLONIC EPILEPSY, INFANTILE | TBC1D24, KIAA1171, FIME |
| 1 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 | ANGPTL3, ANGPT5, FHBL2 |
| 1 | WFS2 | CISD2, WFS2, ZCD2, ERIS |
| 1 | SCZD9 | DISC1, SCZD9 |
| 1 | NAIC | CIRH1A, NAIC, TEX292, KIAA1988 |
| 1 | OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA | COL2A1 |
| 1 | STL2 | COL11A1, STL2 |
| 1 | MCPH3 | CDK5RAP2, KIAA1633, MCPH3 |
| 1 | LI3 | CYP4F22, LI3 |
| 1 | CPVT1 | RYR2, VTSIP, ARVD2, ARVC2 |
| 1 | CMD1I | DES, CMD1I |
| 1 | CRS2 | MSX2, CRS2, HOX8 |
| 1 | DFNA20 | ACTG1, DFNA20, DFNA26 |
| 1 | ORTHOSTATIC INTOLERANCE | SLC6A2, NAT1, NET1 |
| 1 | STHAG3 | PAX9, STHAG3 |
| 1 | CMT4B2 | SBF2, MTMR13, CMT4B2 |
| 1 | PFHB1B | TRPM4, PFHB1B |
| 1 | LCA5 | LCA5, C6orf152 |
| 1 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | PKP1 |
| 1 | CAMT | MPL, TPOR, MPLV |
| 1 | SCA11 | TTBK2, SCA11 |
| 1 | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE | PSTPIP1, PSTPIP, CD2BP1, PAPAS |
| 1 | FEB3A | SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 |
| 1 | LCA4 | AIPL1, LCA4 |
| 1 | ATLD | MRE11A, MRE11, ATLD |
| 1 | NPHP3 | NPHP3, NPH3, RHPD, MKS7 |
| 1 | LAH2 | LIPH, LAH2, ARWH2 |
| 1 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY | SCO2 |
| 1 | BROVCA1 | BRCA1, PSCP, BROVCA1, PNCA4 |
| 1 | SIALURIA, FINNISH TYPE | SLC17A5, SIASD, SLD |
| 1 | SPG11 | SPG11, KIAA1840, FLJ21439 |
| 1 | DUANE RETRACTION SYNDROME 2 | CHN1, CHN, ARHGAP2, RHOGAP2, DURS2 |
| 1 | FEB4 | GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C |
| 1 | ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL | PER2, FASPS, KIAA0347 |
| 1 | SCA12 | PPP2R2B |
| 1 | MCPH4 | CEP152, KIAA0912, MCPH4, SCKL5 |
| 1 | DSMA1 | IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6 |
| 1 | MCPH2 | WDR62, C19orf14, MCPH2 |
| 1 | MASS SYNDROME | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | EEC3 | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | ACERULOPLASMINEMIA | CP |
| 1 | LGMD2E | SGCB, LGMD2E |
| 1 | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION | SLC4A4, NBC1, KNBC, SLC4A5 |
| 1 | ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY | ATPAF2, ATP12, MC5DN1 |
| 1 | HFE3 | TFR2, HFE3 |
| 1 | GEFS+ | SCN1B, GEFSP1 |
| 1 | LCA3 | SPATA7, HSD3, LCA3 |
| 1 | FENIB | SERPINI1, PI12 |
| 1 | SPG10 | KIF5A, NKHC, SPG10 |
| 1 | PN | C16orf57, PN |
| 1 | LVNC1 | DTNA, D18S892E, DRP3, LVNC1 |
| 1 | CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY | CTDP1, FCP1, CCFDN |
| 1 | CMD1G | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | EPIDERMOLYSIS BULLOSA PRURIGINOSA | COL7A1 |
| 1 | VOHWINKEL SYNDROME, VARIANT FORM | LOR |
| 1 | CORD3 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | MLC | MLC1, LVM, VL |
| 1 | FSGS2 | TRPC6, TRP6, FSGS2 |
| 1 | CERVICAL CANCER | FGFR3, ACH |
| 1 | MVCD1 | VEGF, MVCD1 |
| 1 | ALPS2A | CASP10, MCH4, ALPS2 |
| 1 | SICKLE CELL ANEMIA | HBB |
| 1 | BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE | HBB |
| 1 | MCKD2 | UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 |
| 1 | LQT3 | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | VF1 | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | ARH | LDLRAP1, ARH, FHCB2, FHCB1 |
| 1 | STGD4 | PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 |
| 1 | HCHOLA3 | PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 |
| 1 | YOUNG-SIMPSON SYNDROME | KAT6B, MYST4, MORF |
| 1 | DFNB16 | STRC, DFNB16 |
| 1 | HMERF | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY | EPHB2, EPHT3, DRT, ERK, PCBC, CAPB |
| 1 | CORD7 | RIMS1, RIM1, RIM, KIAA0340, CORD7 |
| 1 | DFNB21 | TECTA, DFNA8, DFNA12, DFNB21 |
| 1 | DFNA17 | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | CDG2F | SLC35A1, CST, CDG2F |
| 1 | SPG8 | KIAA0196, SPG8 |
| 1 | FHL2 | PRF1, HPLH2, FLH2 |
| 1 | FHL4 | STX11, FHL4, HPLH4, HLH4 |
| 1 | LMS | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA | DHS |
| 1 | SCA10 | ATXN10, SCA10 |
| 1 | CPSQ1 | GAD1, SCP, CPSQ1 |
| 1 | CTLN2 | SLC25A13, CTLN2 |
| 1 | FANCF | FANCF |
| 1 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | TSHR, CHNG1 |
| 1 | GRACILE SYNDROME | BCS1L, FLNMS, GRACILE, BJS, PTD |
| 1 | CCM3 | PDCD10, TFAR15, CCM3 |
| 1 | CCM2 | C7orf22, CCM2, MGC4067 |
| 1 | FSGS1 | ACTN4, FSGS1, FSGS |
| 1 | HDL1 | PRNP, PRIP |
| 1 | MKS2 | TMEM216, JBTS2, CORS2, MKS2 |
| 1 | CDG1C | ALG6, CDG1C |
| 1 | MNGIE | TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1 |
| 1 | EAD | COLQ, EAD |
| 1 | SCZD6 | NRG1, HGL, HRGA, ARIA |
| 1 | AMDM | NPR2, ANPRB, AMDM |
| 1 | MUENKE SYNDROME | FGFR3, ACH |
| 1 | RP25 | EYS, RP25 |
| 1 | RSMD1 | SEPN1, SELN, RSMD1, CFTD |
| 1 | RTADR | ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR |
| 1 | DM2 | ZNF9, CNBP1, DM2, PROMM |
| 1 | DYT6 | THAP1, DYT6 |
| 1 | CDG1B | MPI, PMI1, CDG1B |
| 1 | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE | CHKB, CHKL, CKEKB, EKB, MDCMC |
| 1 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | HYPERLIPIDEMIA, COMBINED, 1 | USF1, HYPLIP1 |
| 1 | HHF3 | GCK, HHF3 |
| 1 | RIEG3 | FOXC1, FKHL7, FREAC3, IRID1, RIEG3 |
| 1 | FHM2 | ATP1A2, FHM2, MHP2 |
| 1 | ENCEPHALOPATHY, ETHYLMALONIC | ETHE1, HSCO, D83198 |
| 1 | DFNA15 | POU4F3, BRN3C |
| 1 | ALS4 | SETX, SCAR1, AOA2, ALS4 |
| 1 | DESMOSTEROLOSIS | DHCR24, KIAA0018 |
| 1 | JH | HJV, HFE2A |
| 1 | PFIC3 | ABCB4, PGY3, MDR3 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE | MMP13, CLG3, MANDP1 |
| 1 | COD3 | GUCA1A, GCAP, COD3, CORD14 |
| 1 | DFNB18 | USH1C, DFNB18 |
| 1 | NPHP2 | INVS, INV, NPHP2, NPH2 |
| 1 | USH1F | PCDH15, DFNB23, USH1F |
| 1 | CDB2 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | SPCH1 | FOXP2, SPCH1, TNRC10, CAGH44 |
| 1 | TMAU | FMO3, TMAU |
| 1 | CFEOM2 | PHOX2A, ARIX, CFEOM2 |
| 1 | PURE&apos | KRT85, KRTHB5, HB5 |
| 1 | BMIQ9 | MC3R, BMIQ9 |
| 1 | HOMG1 | TRPM6, CHAK2, HOMG1 |
| 1 | LGMD2G | TCAP, LGMD2G, CMD1N |
| 1 | KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA | POMP, UMP1 |
| 1 | IDDM10 | IL2RA, IL2R, IDDM10 |
| 1 | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 | FN1, FN, LETS, FNZ, GFND2 |
| 1 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 |
| 1 | CZP3 | GJA3, CX46, CZP3, CAE3 |
| 1 | BMND1 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | DFNB15 | GIPC3, DFNB15, DFNB72, DFNB95 |
| 1 | DFNA13 | COL11A2, STL3, DFNA13, DFNB53 |
| 1 | ALPS | TNFRSF6, APT1, FAS, CD95, ALPS1A |
| 1 | PFIC2 | ABCB11, BSEP, SPGP, PFIC2, BRIC2 |
| 1 | HHF2 | KCNJ11, BIR, PHHI, HHF2, TNDM3 |
| 1 | BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM | UGT1A1, UGT1, GNT1, BILIQTL1 |
| 1 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | PHGDH |
| 1 | EVR4 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | SHEP3 | TYR, SHEP3, CMM8 |
| 1 | CLN6 | CLN6, CLN4A |
| 1 | CORD6 | GUCY2D, GUC2D, LCA1, CORD6, RCD2 |
| 1 | ADDUCTED THUMB-CLUBFOOT SYNDROME | CHST14, D4ST1, ATCS |
| 1 | SLEB1 | TLR5, TIL3, SLEB1 |
| 1 | RP19 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | QPD | PLAU, URK, QPD, BDPLT5 |
| 1 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | FOXN1, WHN |
| 1 | NOVELTY SEEKING PERSONALITY TRAIT | DRD4 |
| 1 | BARTTER SYNDROME, ANTENATAL, TYPE 1 | SLC12A1, NKCC2 |
| 1 | PGL2 | SDHAF2, SDH5, PGL2 |
| 1 | IRID1 | FOXC1, FKHL7, FREAC3, IRID1, RIEG3 |
| 1 | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 | CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS |
| 1 | CMT4C | SH3TC2, KIAA1985, MNMN |
| 1 | WT5 | POU6F2, WTSL, WT5 |
| 1 | STUVE-WIEDEMANN SYNDROME | LIFR, STWS, SWS, SJS2 |
| 1 | HJMD | CDH3, CDHP, PCAD, HJMD |
| 1 | BLOOD GROUP--FROESE | SLC4A1, AE1, EPB3 |
| 1 | SW | SLC4A1, AE1, EPB3 |
| 1 | CCA2 | CRYBB2, CRYB2 |
| 1 | DFNA3A | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | DFNA12 | TECTA, DFNA8, DFNA12, DFNB21 |
| 1 | ABDS | HOXA1, HOX1F, BSAS |
| 1 | HPC1 | RNASEL, RNS4, PRCA1, HPC1 |
| 1 | AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE | IGHM, MU, AGM1 |
| 1 | CMD1D | TNNT2, CMH2, CMD1D, RCM3, LVNC6 |
| 1 | CMD1C | LDB3, ZASP, CYPHER, KIAA01613, CMD1C, LVNC3 |
| 1 | HYALURONIDASE DEFICIENCY | HYAL1 |
| 1 | CMT2D | GARS, SMAD1, CMT2D, HMN5 |
| 1 | CMT4D | NDRG1, HMSNL, CMT4D |
| 1 | NEVO SYNDROME | PLOD, PLOD1 |
| 1 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | DES, CMD1I |
| 1 | RP18 | HPRP3, RP18 |
| 1 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | RUNX1, CBFA2, AML1 |
| 1 | IDDM12 | CTLA4, IDDM12, CELIAC3, GRD4 |
| 1 | CMT4B1 | MTMR2, CMT4B1 |
| 1 | CRISPONI SYNDROME | CRLF1, CISS |
| 1 | DFNA9 | COCH, DFNA9 |
| 1 | NFNS | NF1, VRNF, WSS, NFNS |
| 1 | DFNA11 | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | DFNA10 | EYA4, DFNA10, CMD1J |
| 1 | LGMD2F | SGCD, SGD, LGMD2F, CMD1L |
| 1 | CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT | CRYGD, CRYG4, CCP |
| 1 | NIDDM1 | CAPN10, NIDDM1 |
| 1 | LI2 | ABCA12, ICR2B, LI2 |
| 1 | ATCAY | ATCAY, CLAC, KIAA1872 |
| 1 | NAXOS DISEASE | JUP, DP3, PDGB, ARVD12 |
| 1 | PPB | DICER1, HERNA, KIAA0928, MNG1 |
| 1 | MCOPS9 | STRA6, MCOPS9 |
| 1 | CMD1E | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | MFN2, KIAA0214, CMT2A2 |
| 1 | BRUGADA SYNDROME 1 | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | CDG1D | ALG3, NOT56L, CDGS4, CDG1D |
| 1 | PSNP1 | MAPT, MTBT1, DDPAC, MSTD |
| 1 | CMT1C | LITAF, CMT1C |
| 1 | DFNB8 | TMPRSS3, ECHOS1, DFNB8, DFNB10 |
| 1 | DFNB9 | OTOF, DFNB9, NSRD9, AUNB1 |
| 1 | TS | CACNA1C, CACNL1A1, CCHL1A1, TS |
| 1 | BRODY MYOPATHY | ATP2A1, SERCA1 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE | KRT14 |
| 1 | ARVD2 | RYR2, VTSIP, ARVD2, ARVC2 |
| 1 | SRN1 | PDCN, NPHS2, SRN1 |
| 1 | DFNA5 | DFNA5 |
| 1 | CORD5 | PITPNM3, NIR1, CORD5 |
| 1 | DFNB7 | TMC1, DFNB7, DFNB11, DFNA36 |
| 1 | ACG1B | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | DFNB6 | TMIE, DFNB6 |
| 1 | EDM3 | COL9A3, EDM3, IDD |
| 1 | DFNA6 | WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL |
| 1 | PROPROTEIN CONVERTASE 1/3 DEFICIENCY | PCSK1, NEC1, PC1, PC3, BMIQ12 |
| 1 | VDEGS | SCARF2, SREC2, VDEGS |
| 1 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | ANK2, LQT4 |
| 1 | FANCE | FANCE, FACE |
| 1 | HYPERFERRITINEMIA-CATARACT SYNDROME | FTL, NBIA3 |
| 1 | CMT2B | RAB7, CMT2B, PSN |
| 1 | CCZS | CRYBA1, CRYB1 |
| 1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME | PRKAG2, WPWS, CMH6 |
| 1 | RP17 | CA4, RP17 |
| 1 | SCZD4 | PRODH, PRODH2, SCZD4 |
| 1 | GBD1 | ABCB4, PGY3, MDR3 |
| 1 | FTD3 | CHMP2B, DMT1, VPS2B |
| 1 | IBM2 | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | D-2-@HYDROXYGLUTARIC ACIDURIA | D2HGDH, D2HGD |
| 1 | EIG | ME2, ODS1 |
| 1 | DFNA4 | MYH14, KIAA2034, DFNA4, PNMHH |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2, IIAE4 |
| 1 | CFEOM3 | TUBB3, TUBB4, CFEOM3A, CDCBM |
| 1 | PITUITARY ADENOMA, PROLACTIN-SECRETING | AIP, XAP2, ARA9 |
| 1 | UVS | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | OFC11 | BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 |
| 1 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 | CHRNA4, ENFL1 |
| 1 | ADLTE | LGI1, EPT, ETL1 |
| 1 | ABCD SYNDROME | EDNRB, HSCR2, ABCDS, WS4A |
| 1 | MODY3 | HNF1A, TCF1, MODY3, IDDM20 |
| 1 | MLASA | PUS1, MLASA1 |
| 1 | BDMR | HDAC4, HDACA, BDMR, AHO3 |
| 1 | ORW2 | ACVRL1, ACVRLK1, ALK1, HHT2 |
| 1 | SPG6 | NIPA1, SPG6 |
| 1 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC |
| 1 | IDDM5 | SUMO4, IDDM5 |
| 1 | DFNB3 | MYO15A, DFNB3 |
| 1 | AVSD | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS | SPECC1L, KIAA0376, OBLFC1 |
| 1 | SCA5 | SPTBN2, SCA5 |
| 1 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | EDM2 | COL9A2, EDM2, STL5 |
| 1 | DYX2 | KIAA0319, DYX2, DYLX2, DLX2 |
| 1 | VMCM | TEK, TIE2, VMCM |
| 1 | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | HSCR2 | EDNRB, HSCR2, ABCDS, WS4A |
| 1 | SACRAL DEFECT WITH ANTERIOR MENINGOCELE | VANGL1, STBM2 |
| 1 | CLN8 | CLN8, EPMR |
| 1 | RP11 | PRPF31, PRP31, RP11 |
| 1 | RP14 | TULP1, RP14, LCA15 |
| 1 | RCDP3 | AGPS, ADHAPS |
| 1 | WARBM | RAB3GAP1, WARBM1, P130 |
| 1 | PARK2 | PRKN, PARK2, PDJ, LPRS2 |
| 1 | STGD3 | ELOVL4, ADMD, STGD2, STGD3 |
| 1 | RP12 | CRB1, RP12, LCA8 |
| 1 | DFNA2A | KCNQ4, DFNA2A |
| 1 | 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE | CYP2R1 |
| 1 | FFI | PRNP, PRIP |
| 1 | DFNB2 | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | RP13 | PRPF8, PRPC8, RP13 |
| 1 | EIKEN SKELETAL DYSPLASIA | PTHR1, PTHR, PFE |
| 1 | DEAFNESS, AMINOGLYCOSIDE-INDUCED | TRMU, MTO2, TRNT1 |
| 1 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | USP9Y, DFFRY, SPGFY2 |
| 1 | 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE | SRY, TDF, TDY, SRXX1, SRXY1 |
| 1 | 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED | SRY, TDF, TDY, SRXX1, SRXY1 |
| 1 | CVD1 | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | DYT3 | TAF1, TAF2A, CCG1, BA2R, DYT3 |
| 1 | THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS | GATA1, GF1, ERYF1, NFE1, XLTT |
| 1 | THC1 | WAS, IMD2, THC1, SCNX |
| 1 | STHAGX1 | ED1, EDA, HED, STHAGX1 |
| 1 | SEDT | TRAPPC2, SEDL, SEDT |
| 1 | SMAX1 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 |
| 1 | SPG2 | PLP1, PMD, HLD1 |
| 1 | SGBS1 | GPC3, SDYS, SGBS1 |
| 1 | CIDX | IL2RG, SCIDX1, SCIDX, IMD4 |
| 1 | RTT | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | RS1 | RS1, XLRS1 |
| 1 | RP2 | RP2 |
| 1 | ANDROGEN INSENSITIVITY, PARTIAL | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 |
| 1 | PYRUVATE DECARBOXYLASE DEFICIENCY | PDHA1, PHE1A |
| 1 | PMD | PLP1, PMD, HLD1 |
| 1 | PROPERDIN DEFICIENCY, X-LINKED | PFC, PFD |
| 1 | PHPX | SOX3, MRGH |
| 1 | TARPS | RBM10, DXS8237E, KIAA0122, TARPS |
| 1 | POF1 | FMR1, FRAXA, POF1 |
| 1 | OPD1 | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO | OTC |
| 1 | OFD1 | OFD1, CXorf5, SGBS2, JBTS10 |
| 1 | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | TIMM8A, DFN1, DDP, MTS, DDP1 |
| 1 | CMTX5 | PRPS1, CMTX5, DFNX1, DFN2 |
| 1 | NYS1 | FRMD7, NYS1, XIPAN |
| 1 | ND | NDP, ND |
| 1 | CSNB1A | NYX, CSNB1A, NBM1 |
| 1 | XRN | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | NSX | POLA |
| 1 | MTM1 | MTM1, MTMX |
| 1 | EDMD1 | EMD, EDMD, STA |
| 1 | DMD | DMD, BMD, CMD3B |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE II | IDS, MPS2, SIDS |
| 1 | MCOPS7 | HCCS, MCOPS7 |
| 1 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | SMS, SRS, MRSR |
| 1 | MRXHF1 | ATRX, XH2, XNP, SHS, SFM1, MRXHF1 |
| 1 | MRX9 | FTSJ1, JM23, SPB1, MRX44, MRX9 |
| 1 | MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE | AFF2, FMR2, FRAXE, MRX2 |
| 1 | MRX1 | IQSEC2, KIAA0522, MRX1 |
| 1 | LUJAN-FRYNS SYNDROME | MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1 |
| 1 | PRTS | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 |
| 1 | RENS1 | PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 |
| 1 | MENKES DISEASE | ATP7A, MNK, MK, OHS, SMAX3 |
| 1 | MNS | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | 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, DELXq22.3, CXDELq22.3 |
| 1 | LEIGH SYNDROME, X-LINKED | PDHA1, PHE1A |
| 1 | KAL1 | KAL1, KMS, ADMLX |
| 1 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 |
| 1 | IP | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | XLP1 | SH2D1A, LYP, IMD5, XLP, XLPD |
| 1 | HIGM1 | TNFSF5, CD40LG, HIGM1, IGM |
| 1 | ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME | MBTPS2, S2P, IFAP, KFSDX |
| 1 | XLI | STS, ARSC1, ARSC, SSDD, XLI |
| 1 | CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS | NSDHL |
| 1 | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | PHEX, HYP, HPDR1, LXHR |
| 1 | IGHD3 | BTK, AGMX1, IMD1, XLA, AT |
| 1 | HYPERGLYCEROLEMIA | GK |
| 1 | HSAS | L1CAM, CAML1, HSAS1 |
| 1 | HTX1 | ZIC3, HTX1, HTX |
| 1 | HEMB | F9, HEMB |
| 1 | HEMOPHILIA A | F8, F8C, HEMA |
| 1 | CGD | CYBB, CGD, AMCBX2 |
| 1 | GLYCOGEN STORAGE DISEASE IXa1 | PHKA2, PHK, XLG, PHK, PYKL, GSD9A |
| 1 | FMD | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | FDH | PORCN, PORC, DHOF, FODH |
| 1 | OKS | MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1 |
| 1 | FACIOGENITAL DYSPLASIA | FGD1, FGDY, AAS, MRXS16 |
| 1 | EVR2 | NDP, ND |
| 1 | XHED | ED1, EDA, HED, STHAGX1 |
| 1 | DKC | DKC1, DKCX |
| 1 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | AVPR2, DIR, DI1, ADHR |
| 1 | IPEX | FOXP3, IPEX, AIID, XPID, PIDX |
| 1 | MTS | TIMM8A, DFN1, DDP, MTS, DDP1 |
| 1 | DFNX1 | PRPS1, CMTX5, DFNX1, DFN2 |
| 1 | DFNX2 | POU3F4, DFN3, DFNX2 |
| 1 | CUTIS LAXA, X-LINKED | ATP7A, MNK, MK, OHS, SMAX3 |
| 1 | OPD2 | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | CFNS | EFNB1, EPLG2, CFNS, CFND |
| 1 | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | L1CAM, CAML1, HSAS1 |
| 1 | CORDX1 | RPGR, RP3, CRD, RP15, COD1, CORDX1 |
| 1 | CBP | OPN1LW, RCP, CBP, CBBM |
| 1 | CBD | OPN1MW, GCP, CBD, CBBM |
| 1 | CLS | RPS6KA3, RSK2, MRX19 |
| 1 | CPX | TBX22, CPX |
| 1 | MASA SYNDROME | L1CAM, CAML1, HSAS1 |
| 1 | CHM | CHM, TCD |
| 1 | CDPX2 | EBP, CDPX2, CPXD, CPX |
| 1 | CDPX1 | ARSE, CDPX1, CDPXR |
| 1 | CMTX1 | GJB1, CX32, CMTX1 |
| 1 | NHS | NHS, CXN |
| 1 | CCT | NHS, CXN |
| 1 | BTHS | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | CMD3B | DMD, BMD, CMD3B |
| 1 | BFLS | PHF6, BFLS |
| 1 | ARTS | PRPS1, CMTX5, DFNX1, DFN2 |
| 1 | SMAX2 | UBE1, GXP1, A1ST, SMAX2, AMCX1 |
| 1 | FABRY DISEASE | GLA |
| 1 | ASAT | ABCB7, ABC7, ASAT |
| 1 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | AMELX, AMG, AIH1, AMGX, AI1E |
| 1 | ATS | COL4A5, ATS, ASLN |
| 1 | ATRX | ATRX, XH2, XNP, SHS, SFM1, MRXHF1 |
| 1 | WAS | WAS, IMD2, THC1, SCNX |
| 1 | | UBE2A, RAD6A, MRXSN, MRXS30 |
| 1 | | UBQLN2, PLIC2, CHAP1, ALS15 |
| 1 | | NAA10, ARD1A, ARD1, TE2, NATD |
| 1 | | TFE3, RCCX1 |
| 1 | | MAGT1, IAP, XMEN |
| 1 | | AGTR2, MRX88 |
| 1 | | ZNF674, MRX92 |
| 1 | | DLG3, NEDLG, SAP102, MRX90 |
| 1 | | GDI1, RABGD1A, MRX41, MRX48 |
| 1 | | ZNF41, MRX89 |
| 1 | | RPL10, DXS648, QM, AUTSX5 |
| 1 | | RPS6KA3, RSK2, MRX19 |
| 1 | | XK, MCLDS |
| 1 | | GATA1, GF1, ERYF1, NFE1, XLTT |
| 1 | | RPGR, RP3, CRD, RP15, COD1, CORDX1 |
| 1 | | NSDHL |
| 1 | | PIGA |
| 1 | | AIFM1, PDCD8, AIF, COXPD6 |
| 1 | | GPR143, OA1, NYS6 |
| 1 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT | F9, HEMB |
| 1 | JBTS10 | OFD1, CXorf5, SGBS2, JBTS10 |
| 1 | MENTAL RETARDATION, X-LINKED, ZNF711-RELATED | ZNF711, ZNF6, CMPX1, MRX97 |
| 1 | MENTAL RETARDATION, X-LINKED, SYP-RELATED | SYP, MRXSYP |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED | ZDHHC9, DHHC9, MRXSZ |
| 1 | SMDP4 | CSF2RA, SMDP4 |
| 1 | HYSP2 | MAMLD1, CXorf6, F18, HYSP2 |
| 1 | XLA | BTK, AGMX1, IMD1, XLA, AT |
| 1 | XLDPT | ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1 |
| 1 | XLSA | ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1 |
| 1 | MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA | CASK, MICPCH, FGS4, CMG |
| 1 | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B |
| 1 | MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE | FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B |
| 1 | MRX95 | MAGT1, IAP, XMEN |
| 1 | STAR | FAM58A, STAR |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE | HUWE1, UREB1, KIAA0312, LASU1 |
| 1 | MRX17 | HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22 |
| 1 | MRX94 | GRIA3, GLUR3, MRX94 |
| 1 | XMPMA | FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B |
| 1 | SPM | FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B |
| 1 | MRXS14 | UPF3B, RENT3B, MRXS14 |
| 1 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | CDKL5, STK9, ISSX, EIEE2 |
| 1 | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | PRPS1, CMTX5, DFNX1, DFN2 |
| 1 | MRX93 | BRWD3, MRX93 |
| 1 | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY | PGK1, PGKA |
| 1 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2 | CYBB, CGD, AMCBX2 |
| 1 | RESDX | SRPX2, SRPUL, RESDX |
| 1 | IPD2 | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | AMCBX1 | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | XLP2 | XIAP, BIRC4, API3, XLP2 |
| 1 | HYSP1 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 |
| 1 | MRX59 | AP1S2, MRX59, MRXSF, MRXS21 |
| 1 | FRAGILE X MENTAL RETARDATION SYNDROME | FMR1, FRAXA, POF1 |
| 1 | FXTAS | FMR1, FRAXA, POF1 |
| 1 | TN SYNDROME | C1GALT1C1, COSMC, C1GALT2 |
| 1 | BRUNNER SYNDROME | MAOA |
| 1 | HYPEREKPLEXIA AND EPILEPSY | ARHGEF9, PEM2, KIAA0424, EIEE8 |
| 1 | POF2B | FLJ22792, POF1B, POF2B |
| 1 | AIED | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CDLS2 | DXS423E, SMC1, CDLS2 |
| 1 | IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | MRX91 | ZDHHC15, MRX91 |
| 1 | GLYCOGEN STORAGE DISEASE, TYPE IXd | PHKA1 |
| 1 | MRX30 | PAK3, MRX30, MRX47 |
| 1 | DENT DISEASE 2 | OCRL, LOCR, OCRL1, NPHL2 |
| 1 | HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | NSIAD | AVPR2, DIR, DI1, ADHR |
| 1 | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED | KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ |
| 1 | AHDS | SLC16A2, DXS128, XPCT |
| 1 | FANCB | FAAP95, FAAP90, FLJ34064, FANCB |
| 1 | POF2A | DIAPH2, DIA, POF2 |
| 1 | ODG2 | BMP15, GDF9B, ODG2, POF4 |
| 1 | OA1 | GPR143, OA1, NYS6 |
| 1 | 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 DISORDERS | SYN1 |
| 1 | SMAX3 | ATP7A, MNK, MK, OHS, SMAX3 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE | OPHN1, MRX60 |
| 1 | CORDX3 | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | IGBP1 |
| 1 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | RPGR, RP3, CRD, RP15, COD1, CORDX1 |
| 1 | ATMDS | ATRX, XH2, XNP, SHS, SFM1, MRXHF1 |
| 1 | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY | HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22 |
| 1 | MRX46 | ARHGEF6, MRX46, COOL2 |
| 1 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | SHROOM4, KIAA1202, SDSX |
| 1 | AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 | NLGN3, ASPGX1, AUTSX1 |
| 1 | XMRE | ATP6AP2, ATP6M8-9, XMRE, MRXE |
| 1 | FGS4 | CASK, MICPCH, FGS4, CMG |
| 1 | MRXARX | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 |
| 1 | SCIDX1 | IL2RG, SCIDX1, SCIDX, IMD4 |
| 1 | MRX63 | ACSL4, FACL4, ACS4, MRX63 |
| 1 | BMD | DMD, BMD, CMD3B |
| 1 | OSCS | FAM123B, WTX, FLJ39827, OSCS |
| 1 | DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA | GATA1, GF1, ERYF1, NFE1, XLTT |
| 1 | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR | CUL4B, MRXSC, MRXHF2, SFM2, MRXS15 |
| 1 | CREATINE DEFICIENCY SYNDROME, X-LINKED | SLC6A8, CRTR |
| 1 | GOUT, HPRT-RELATED | HPRT1, HPRT |
| 1 | LNS | HPRT1, HPRT |
| 1 | FGS2 | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | BMIQ11 | SLC6A14, OBX, BMIQ11 |
| 1 | OLEDAID | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | XLN | WAS, IMD2, THC1, SCNX |
| 1 | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 |
| 1 | MRX72 | RAB39B, MRX72 |
| 1 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | PHF8, ZNF422, KIAA1111, MRXSSD |
| 1 | MRXSL | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | DANON DISEASE | LAMP2, LAMPB, LGP110 |
| 1 | TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | SLC9A6, NHE6 |
| 1 | HHS | DKC1, DKCX |
| 1 | MRXS10 | HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22 |
| 1 | LISX2 | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 |
| 1 | MRX58 | TSPAN7, TM4SF2, MXS1, A15, MRX58 |
| 1 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 | OFD1, CXorf5, SGBS2, JBTS10 |
| 1 | AHC | DAX1, AHC, AHX, NROB1, SRXY2 |
| 1 | LVNCX | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | MCOPS2 | BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 |
| 1 | MRX21 | IL1RAPL1, IL1R8, MRX21, MRX34 |
| 1 | MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM | SOX3, MRGH |
| 1 | ALD | ABCD1, ALD, AMN |
| 1 | EFMR | PCDH19, KIAA1313, EFMR, EIEE9 |
| 1 | SXI1 | XIC, XCE, XIST, SXI1 |
| 1 | CSNB2A | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 |
| 1 | CMD3A | TAZ, EFE2, BTHS, CMD3A, LVNCX |
| 1 | AIS | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 |
| 1 | LISX1 | DCX, DBCN, LISX |
| 1 | DFNX4 | SMPX, DFNX4 |
| 1 | MRXS13 | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 |
| 1 | HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1 |
| 1 | RP3 | RPGR, RP3, CRD, RP15, COD1, CORDX1 |
| 1 | DSS | DAX1, AHC, AHX, NROB1, SRXY2 |
| 1 | DENT DISEASE 1 | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 |
| 1 | CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 |
| 1 | OPITZ GBBB SYNDROME, X-LINKED | MID1, OGS1, BBBG1, FXY, OSX |
| 1 | 46,XX GONADAL DYSGENESIS, PARTIAL OR COMPLETE, AUTOSOMAL | SRXX2, DUP17q24.3, DEL17q24.3 |
| 1 | DE SANCTIS-CACCHIONE SYNDROME | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | XPG | ERCC5, XPG, COFS3 |
| 1 | XPF | ERCC4, XPF |
| 1 | XPV | POLH, XPV |
| 1 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | DDB2 |
| 1 | XPD | ERCC2, EM9, XPD, COFS2 |
| 1 | XPC | XPC, XPCC |
| 1 | XPA | XPA, XPAC |
| 1 | XANTHINURIA, TYPE I | XDH |
| 1 | WSS | ATP6V0A2, WSS, ARCL |
| 1 | WOOLLY HAIR, AUTOSOMAL RECESSIVE | LPAR6, P2RY5, P2Y5, LAH3, ARWH1 |
| 1 | WOLMAN DISEASE | LIPA, CESD |
| 1 | WILSON DISEASE | ATP7B, WND |
| 1 | WRN | RECQL2, RECQ3, WRN |
| 1 | WZS | COL11A2, STL3, DFNA13, DFNB53 |
| 1 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE | ADAMTS10, WMS1 |
| 1 | WEAVER SYNDROME | NSD1, ARA267, STO |
| 1 | WAARDENBURG-SHAH SYNDROME | EDNRB, HSCR2, ABCDS, WS4A |
| 1 | VON WILLEBRAND DISEASE, RECESSIVE FORM | VWF, F8VWF |
| 1 | PCH2A | TSEN54, SEN54, PCH2A, PCH4 |
| 1 | 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, cblD TYPE | C2orf25, MMADHC |
| 1 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE | MMACHC |
| 1 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | LMBRD1, LMBD1, NESI |
| 1 | SCDO1 | DLL3, SCDO1 |
| 1 | CBAVD | CFTR, ABCC7, CF, MRP7 |
| 1 | VACTERL ASSOCIATION WITH HYDROCEPHALUS | PTEN, MMAC1, GLM2 |
| 1 | USH1C | USH1C, DFNB18 |
| 1 | USH3 | CLRN1, USH3A, USH3, RP61 |
| 1 | USHER SYNDROME, TYPE I | MYO7A, USH1B, DFNB2, DFNA11 |
| 1 | UROCANASE DEFICIENCY | UROC1 |
| 1 | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | WNT7A |
| 1 | TYROSINEMIA, TYPE III | HPD |
| 1 | TYROSINEMIA, TYPE I | FAH |
| 1 | TYROSINEMIA, TYPE II | TAT |
| 1 | TWINNING, DIZYGOTIC | FSHR, ODG1 |
| 1 | SPG20 | SPG20 |
| 1 | CDS | ABHD5, CGI58, IECN2, NCIE2 |
| 1 | TRANSCOBALAMIN II DEFICIENCY | TCN2, TC2 |
| 1 | CHNG1 | TSHR, CHNG1 |
| 1 | THYROTROPIN-RELEASING HORMONE DEFICIENCY | TRH |
| 1 | CHNG4 | TSHB, CHNG4 |
| 1 | TDH5 | DUOXA2, TDH5 |
| 1 | TDH4 | IYD, DEHAL1, TDH4 |
| 1 | TDH3 | TG, AITD3, TDH3 |
| 1 | PDS | SLC26A4, PDS, DFNB4, EVA, TDH2B |
| 1 | TDH2A | TPO, TPX, TDH2A |
| 1 | TDH1 | SLC5A5, NIS, TDH1 |
| 1 | GRTH | THRB, ERBA2, THR1, PRTH |
| 1 | DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY | DPYD, DPD |
| 1 | TTP | ADAMTS13, VWFCP, TTP |
| 1 | 3M1 | CUL7 |
| 1 | TETRAAMELIA, AUTOSOMAL RECESSIVE | WNT3, INT4 |
| 1 | TSD | HEXA, TSD |
| 1 | GM2-GANGLIOSIDOSIS, AB VARIANT | GM2A |
| 1 | SCT | FLNB, SCT, AOI, LRS1 |
| 1 | CISS1 | CRLF1, CISS |
| 1 | SULFOCYSTEINURIA | SUOX |
| 1 | MSD | SUMF1, FGE |
| 1 | SUDDEN INFANT DEATH SYNDROME | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | ALDH5A1, SSADH |
| 1 | SNDI | NUP62, SNDI, IBSN |
| 1 | CANAVAN DISEASE | ASPA |
| 1 | SPONDYLOPERIPHERAL DYSPLASIA | COL2A1 |
| 1 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | DDR2, NTRKR3, TKT |
| 1 | IOSCA | C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7 |
| 1 | SMA4 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | SPH3 | SPTA1, EL2, SPH3, HS3, HPP |
| 1 | AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS | SYCP3, SCP3, COR1, SPGF4 |
| 1 | SPG5A | CYP7B1, CBAS3, SPG5A |
| 1 | SPG15 | ZFYVE26, KIAA0321, SPG15 |
| 1 | SPG17 | BSCL2, SPG17, HMN5 |
| 1 | SACS | SACS, ARSACS |
| 1 | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO | IGF1R |
| 1 | DIAR3 | SPINT2, HAI2, DIAR3 |
| 1 | SLOS | DHCR7, SLOS |
| 1 | PEELING SKIN SYNDROME | CDSN, HTSS1, PSS |
| 1 | SLS | ALDH3A2, ALDH10, SLS, FALDH |
| 1 | HETEROTAXY, VISCERAL, 5, AUTOSOMAL | NODAL, HTX5 |
| 1 | SIALURIA | GNE, GLCNE, IBM2, DMRV, NM |
| 1 | INFANTILE SIALIC ACID STORAGE DISORDER | SLC17A5, SIASD, SLD |
| 1 | CGL2 | BSCL2, SPG17, HMN5 |
| 1 | SEA-BLUE HISTIOCYTE DISEASE | APOE, AD2, LPG, LDLCQ5 |
| 1 | SOST | SOST, VBCH |
| 1 | SCHNECKENBECKEN DYSPLASIA | SLC35D1, UGTREL7, KIAA0260 |
| 1 | SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME | SETBP1, KIAA0437, SEB |
| 1 | SC PHOCOMELIA SYNDROME | ESCO2 |
| 1 | SARCOSINEMIA | SARDH, SARD, SAR |
| 1 | SANDHOFF DISEASE | HEXB |
| 1 | SACCHAROPINURIA | AASS |
| 1 | RTS | RECQL4, RTS, RECQ4 |
| 1 | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE | ROR2, BDB1, BDB, NTRKR2 |
| 1 | RBS | ESCO2 |
| 1 | RMS1 | SLC22A1L, BWSCR1A, IMPT1 |
| 1 | MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE | LPIN1 |
| 1 | RHN | RHAG, RH50A |
| 1 | REVESZ SYNDROME | TINF2, TIN2, DKCA3 |
| 1 | ESCS | NR2E3, PNR, ESCS, RP37 |
| 1 | RP | SPATA7, HSD3, LCA3 |
| 1 | KNOBLOCH SYNDROME, TYPE I | COL18A1, KNO1 |
| 1 | RETICULAR DYSGENESIS | AK2 |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS | ATP6B1, VPP3 |
| 1 | MOVED TO 208540 | NPHP3, NPH3, RHPD, MKS7 |
| 1 | SLSN1 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | SHEP2 | MC1R, SHEP2, CMM5 |
| 1 | RAPADILINO SYNDROME | RECQL4, RTS, RECQ4 |
| 1 | CDG2C | SLC35C1, FUCT1, CDG2C |
| 1 | PYRUVATE KINASE DEFICIENCY OF RED CELLS | PKLR, PK1 |
| 1 | PYRUVATE CARBOXYLASE DEFICIENCY | PC |
| 1 | HPP | SPTA1, EL2, SPH3, HS3, HPP |
| 1 | GLUTATHIONE SYNTHETASE DEFICIENCY | GSS, GSHS |
| 1 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | NT5C3, UMPH1, PSN1 |
| 1 | EPD | ALDH7A1, ATQ1, EPD, PDE |
| 1 | PYCNODYSOSTOSIS | CTSK |
| 1 | PVOD | BMPR2, PPH1 |
| 1 | SMDP1 | SFTPB, SFTB3, SMDP1 |
| 1 | PULMONARY ALVEOLAR MICROLITHIASIS | SLC34A2 |
| 1 | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | CHRNG, ACHRG |
| 1 | | DHODH, URA1, POADS |
| 1 | VITAMIN D-DEPENDENT RICKETS, TYPE I | CYP27B1, VDD1, PDDR |
| 1 | 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 | HPABH4D | PCBD, DCOH |
| 1 | GITELMAN SYNDROME | SLC12A3, NCCT, TSC |
| 1 | PORPHYRIA, CONGENITAL ERYTHROPOIETIC | UROS |
| 1 | SHORT RIB-POLYDACTYLY SYNDROME, TYPE III | DYNC2H1, DNCH2, DHC2, ATD3 |
| 1 | ERYTHROCYTOSIS, FAMILIAL, 2 | VHL |
| 1 | POLYCYTHEMIA VERA | JAK2 |
| 1 | ARPKD | FCYT, PKHD1, ARPKD |
| 1 | SCOTT SYNDROME | ANO6, TMEM16F, SCTS, BDPLT7 |
| 1 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | PLI, SERPINF2 |
| 1 | CPHD4 | LHX4, CPHD4 |
| 1 | KOWARSKI SYNDROME | GH1, GHN, IGHD1B |
| 1 | CPHD2 | PROP1, CPHD2 |
| 1 | LARON SYNDROME | GHR |
| 1 | IGHD1A | GH1, GHN, IGHD1B |
| 1 | ACHM3 | CNGB3, ACHM3, ACHM1 |
| 1 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES | INSR, HHF5 |
| 1 | BJS | BCS1L, FLNMS, GRACILE, BJS, PTD |
| 1 | GLYCOGEN STORAGE DISEASE IXb | PHKB |
| 1 | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | PRKAG2, WPWS, CMH6 |
| 1 | PCK1 | PCK1 |
| 1 | GSD10 | PGAM2, PGAMM, GSD10 |
| 1 | PCK2 | PCK2, PEPCK2 |
| 1 | HPABH4A | PTS |
| 1 | HPABH4C | QDPR, DHPR |
| 1 | PKU | PAH, PKU1 |
| 1 | PETERS-PLUS SYNDROME | B3GALTL; B3GTL, B3GLCT |
| 1 | D-BIFUNCTIONAL PROTEIN DEFICIENCY | HSD17B4 |
| 1 | PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS | EPX |
| 1 | IFD | GIF, IF |
| 1 | HIDS | MVK, MVLK |
| 1 | PENTOSURIA | DCXR, P34H |
| 1 | COUSIN SYNDROME | TBX15 |
| 1 | LEUKODYSTROPHY, HYPOMYELINATING, 3 | AIMP1, SCYE1, EMAP2, EMAPII, HLD3 |
| 1 | PARKINSON-DEMENTIA SYNDROME | MAPT, MTBT1, DDPAC, MSTD |
| 1 | PAPILLOMA OF CHOROID PLEXUS | TP53, P53, LFS1 |
| 1 | SDS | SBDS, SDS |
| 1 | PANCREATIC AGENESIS, CONGENITAL | IPF1, MODY4 |
| 1 | PARK15 | FBXO7, FBX7, FBX, PKPS, PARK15 |
| 1 | HYPEROXALURIA, PRIMARY, TYPE II | GRHPR, GLXR |
| 1 | HYPEROXALURIA, PRIMARY, TYPE I | AGXT, SPAT |
| 1 | RNS | FAM20C, DMP4 |
| 1 | OPPG | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | OPTB3 | CA2 |
| 1 | OPTB5 | OSTM1, GL, OPTB5 |
| 1 | OPTB2 | TNFSF11, OPGL, TRANCE, OPTB2 |
| 1 | OPTB1 | TCIRG1, TIRC7, OC116, OPTB1 |
| 1 | TORG-WINCHESTER SYNDROME | MMP2, CLG4A, MONA |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE IX | PPIB, CYPB, OI9 |
| 1 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE | HPGD, PGDH1 |
| 1 | OROTIC ACIDURIA I | UMPS, OPRT |
| 1 | ORNITHINE AMINOTRANSFERASE DEFICIENCY | OAT, GACR |
| 1 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | GP1BA, BSS, BDPLT1, VWDP, BDPLT3 |
| 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE III | OPA3, MGA3 |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS |
| 1 | OMOD1 | GPC6, OMIMD1 |
| 1 | OGUCHI DISEASE 1 | SAG, RP47 |
| 1 | OODD | WNT10A, SSPS, STHAG4, OODD |
| 1 | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | LIS2 | RELN, RL, LIS2 |
| 1 | MVA | BUB1B, BUBR1 |
| 1 | CSNB1B | GRM6, MGLUR6, CSNB1B |
| 1 | NPC1 | NPC1, NPC |
| 1 | NIEMANN-PICK DISEASE, TYPE A | SMPD1, NPD |
| 1 | GAN1 | GAN, GAN1 |
| 1 | NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE | CCT5, KIAA0098, CCTE |
| 1 | NN | MPV17, MTDPS6 |
| 1 | CIPA | NTRK1, TRKA, MTC |
| 1 | CLN5 | CLN5 |
| 1 | CLN1 | PPT1, CLN1 |
| 1 | INAD1 | PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 |
| 1 | NEURAMINIDASE DEFICIENCY | NEU1, NEU, SIAL1 |
| 1 | GSL | CTSA, PPGB, GSL, NGBE, GLB2 |
| 1 | NETH | SPINK5, LEKTI |
| 1 | HHF1 | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS | WT1, NPHS4 |
| 1 | NPHS1 | NPHS1, NPHN |
| 1 | NPHP1 | NPHP1, NPH1, SLSN1, JBTS4 |
| 1 | AOII | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | NAKAJO SYNDROME | PSMB8, LMP7, RING10, JMP, NKJO |
| 1 | NEM2 | NEB, NEM2 |
| 1 | MYXOMA, INTRACARDIAC | PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ADOHR |
| 1 | SJS1 | HSPG2, PLC, SJS, SJA, SJS1 |
| 1 | MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE | CLCN1 |
| 1 | MYOSCLEROSIS, AUTOSOMAL RECESSIVE | COL6A2 |
| 1 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA | RYR1, MHS, CCO |
| 1 | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE | BIN1, AMPHL |
| 1 | MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE | ISCU, HML |
| 1 | CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | CPT1A |
| 1 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2, IIAE4 |
| 1 | AMRF | SCARB2, CD36L2, LIMPII, AMRF, EPM4 |
| 1 | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | CSTB, STFB, EPM1, PME, EPM1A, ULD |
| 1 | EJM | EFHC1, FLJ10466, EJM1, JAE, EJA1 |
| 1 | MYELOPEROXIDASE DEFICIENCY | MPO |
| 1 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA | CHAT, CMS1A2 |
| 1 | MM | DYSF, LGMD2B, MMD1 |
| 1 | LGMD2H | TRIM32, HT2A, LGMD2H, BBS11 |
| 1 | FCMD | FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 |
| 1 | LGMD2C | SGCG, LGMD2C, DMDA1, SCG3 |
| 1 | LGMD2B | DYSF, LGMD2B, MMD1 |
| 1 | LGMD2A | CAPN3, CANP3 |
| 1 | SMA2 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | LCCS1 | GLE1, GLE1L, LCCS, LCCS1 |
| 1 | SMA1 | SMN1, SMA1, SMA2, SMA3, SMA4 |
| 1 | MEB | POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3 |
| 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, MPS4B |
| 1 | MORQUIO SYNDROME A | GALNS, MPS4A |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIID | GNS, G6S |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIC | HGSNAT, TMEM76, MPS3C |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | NAGLU, MPS3B |
| 1 | MUCOPOLYSACCHARIDOSIS TYPE IIIA | SGSH, MPS3A, SFMD |
| 1 | MUCOLIPIDOSIS IV | MCOLN1, ML4 |
| 1 | MUCOLIPIDOSIS III GAMMA | GNPTAG |
| 1 | MUCOLIPIDOSIS III ALPHA/BETA | GNPTAB, GNPTA |
| 1 | MUCOLIPIDOSIS II ALPHA/BETA | GNPTAB, GNPTA |
| 1 | MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM, AUTOSOMAL RECESSIVE | DGUOK, DGK, MTDPS3 |
| 1 | DIAR2 | MYO5B, KIAA1119 |
| 1 | DBQD | CANT1, SCAN1, DBQD |
| 1 | PSEUDO-TORCH SYNDROME | OCLN, BLCPMG |
| 1 | NIJMEGEN BREAKAGE SYNDROME | NBS1, NBS |
| 1 | MCPH1 | MCPH1 |
| 1 | METHYLMALONYL-CoA EPIMERASE DEFICIENCY | MCEE |
| 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 | METHIONINE ADENOSYLTRANSFERASE DEFICIENCY | MAT1A, MATA1, SAMS1 |
| 1 | METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE | CYB5R3, DIA1, B5R |
| 1 | METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 | CYB5A, MCB5 |
| 1 | BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY | HIBCH |
| 1 | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | RMRP, RMRPR, CHH |
| 1 | CHH | RMRP, RMRPR, CHH |
| 1 | METACHROMATIC LEUKODYSTROPHY | ARSA |
| 1 | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | PSAP, SAP1 |
| 1 | MRT1 | PRSS12, BSSP3, MRT1 |
| 1 | FRANK-TER HAAR SYNDROME | SH3PXD2B, TKS4, KIAA1295, FTHS |
| 1 | TRMA | SLC19A2, THTR1 |
| 1 | FMF | MEFV, MEF, FMF |
| 1 | MKS1 | MKS1, MKS, BBS13 |
| 1 | MAST SYNDROME | ACP33, MAST, SPG21 |
| 1 | MSS | SIL1, BAP, MSS |
| 1 | MANNOSIDOSIS, BETA A, LYSOSOMAL | MANBA, MANB1 |
| 1 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MAN2B1, MANB |
| 1 | MOTA | FREM1, C9orf154, BNAR, MOTA |
| 1 | MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE | POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3 |
| 1 | MADA | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | MALONYL-CoA DECARBOXYLASE DEFICIENCY | MLYCD, MCD |
| 1 | MAL DE MELEDA | SLURP1, MDM |
| 1 | HOMG3 | CLDN16, PCLN1, HOMG3 |
| 1 | HOMG5 | CLDN19, HOMG5 |
| 1 | LUTHERAN NULL | LU, AU, BCAM |
| 1 | LIPOID PROTEINOSIS OF URBACH AND WIETHE | ECM1 |
| 1 | CMRD | SAR1B, CMRD, SARA2, ANDD |
| 1 | LIPASE DEFICIENCY, COMBINED | LMF1, TMEM112 |
| 1 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY | HMGCL |
| 1 | LEPROSY, SUSCEPTIBILITY TO | TLR2, TIL4 |
| 1 | DONOHUE SYNDROME | INSR, HHF5 |
| 1 | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | LCAT |
| 1 | LOCS | LAMA3, LOCS |
| 1 | LARSEN SYNDROME, RECESSIVE | B3GAT3, GLCATI |
| 1 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | STAT5B |
| 1 | SGD | CEBPE, CRP1 |
| 1 | LACTIC ACIDOSIS, FATAL INFANTILE | SUCLG1, SUCLA1, MTDPS9 |
| 1 | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY | PDX1 |
| 1 | PYRUVATE DEHYDROGENASE E2 DEFICIENCY | DLAT, PDCE2 |
| 1 | ERYTHROCYTE LACTATE TRANSPORTER DEFECT | SLC16A1, MCT1, HHF7 |
| 1 | KRABBE DISEASE | GALC |
| 1 | KEUTEL SYNDROME | MGP, NTI |
| 1 | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | OXCT1, OXCT, SCOT |
| 1 | HMS | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | PALS | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | KCS1 | TBCE, KCS, KCS1, HRD |
| 1 | CILD1 | DNAI1, CILD1, ICS, PCD |
| 1 | KAL3 | PROKR2, PKR2, GPR73L1, KAL3 |
| 1 | JBS | UBR1, JBS |
| 1 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE | DOCK8, MRD2 |
| 1 | IVA | IVD |
| 1 | ACETYLATION, SLOW | NAT2, AAC2 |
| 1 | BRIC1 | ATP8B1, FIC1, BRIC, PFIC1 |
| 1 | MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA | STK13, AIE2, SPGF5 |
| 1 | INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE | SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP |
| 1 | IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE | SMARCAL1, HARP, SIOD |
| 1 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | DNMT3B, ICF1 |
| 1 | ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE | ABCA12, ICR2B, LI2 |
| 1 | LI1 | TGM1, ICR2, LI1 |
| 1 | HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE | FOXE1, FKHL15, TITF2, TTF2 |
| 1 | HYPOTHALAMIC HAMARTOMAS | GLI3, PAPA, PAPB |
| 1 | HYPOPROTEINEMIA, HYPERCATABOLIC | B2M |
| 1 | HYPOPLASTIC LEFT HEART SYNDROME | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | HHRH | SLC34A3, NPTIIC, HHRH |
| 1 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE | DMP1, ARHR, ARHP |
| 1 | HYPOPHOSPHATASIA, CHILDHOOD | ALPL, HOPS, TNSALP |
| 1 | HYPOPHOSPHATASIA, INFANTILE | ALPL, HOPS, TNSALP |
| 1 | HRD | TBCE, KCS, KCS1, HRD |
| 1 | BARTTER SYNDROME, ANTENATAL, TYPE 2 | KCNJ1, ROMK1 |
| 1 | HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME | C2orf37 |
| 1 | HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA | AKT2, HIHGHH |
| 1 | LIH | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 |
| 1 | GLYCOGEN STORAGE DISEASE 0, LIVER | GYS2 |
| 1 | CVID | TNFRSF13B, TACI, CVID2 |
| 1 | APS1 | AIRE, APECED, APS1 |
| 1 | HPII | ALDH4A1, ALDH4, P5CDH |
| 1 | HPI | PRODH, PRODH2, SCZD4 |
| 1 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION | PIGV |
| 1 | NSHPT | CASR, HHC1, PCAR1, FIH, EIG8 |
| 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 | LEYDIG CELL HYPOPLASIA, TYPE I | LHCGR, LHR, LCGR |
| 1 | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL | UGT1A1, UGT1, GNT1, BILIQTL1 |
| 1 | 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 | UFS | HPSE2, HPA2, UFS |
| 1 | MKKS | MKKS, HMCS, KMS, MKS, BBS6 |
| 1 | HYDROLETHALUS SYNDROME 1 | HYLS1, FLJ32915 |
| 1 | WWS | POMT1, MDDGA1, MDDGB1, MDDGC1 |
| 1 | HYALINOSIS, INFANTILE SYSTEMIC | ANTXR2, CMG2, JHF, ISH |
| 1 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE | MTRR |
| 1 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | MTHFR |
| 1 | HOMOCYSTINURIA | CBS |
| 1 | HODGKIN LYMPHOMA | KLHDC8B |
| 1 | HISTIDINEMIA | HAL, HSTD |
| 1 | MOWAT-WILSON SYNDROME | ZEB2, ZFHX1B, SMADIP1, SIP1 |
| 1 | HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA | HK1 |
| 1 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 | AKR1D1, SRD5B1, CBAS2 |
| 1 | VODI | SP110, IFI41, IFI75, VODI |
| 1 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME | CCBE1, KIAA1983 |
| 1 | HARTNUP DISORDER | SLC6A19, HND |
| 1 | NBIA1 | PANK2, NBIA1, PKAN, HARP |
| 1 | HSS | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | TTDN1 | C7orf11, ABHS, TTDN1 |
| 1 | FACTOR XII DEFICIENCY | F12, HAF, HAE3 |
| 1 | HPABH4B | GCH1, DYT5, HPABH4B |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II | NCF2 |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I | NCF1 |
| 1 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | CYBA |
| 1 | 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED | DHH, SRXY7, GDXYM |
| 1 | GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS | HSD17B4 |
| 1 | ODG1 | FSHR, ODG1 |
| 1 | GLYS1 | SLC5A2, SGLT2 |
| 1 | GLYCOGEN STORAGE DISEASE VII | PFKM, GSD7 |
| 1 | GLYCOGEN STORAGE DISEASE VI | PYGL |
| 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 | SLC37A4, G6PT1 |
| 1 | GLYCOGEN STORAGE DISEASE I | G6PC, G6PT |
| 1 | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO | GSS, GSHS |
| 1 | GLUTARIC ACIDURIA III | C7orf10 |
| 1 | GLUTARIC ACIDEMIA I | GCDH |
| 1 | AAA | AAAS, AAA |
| 1 | 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | HADHSC, SCHAD, HHF4 |
| 1 | GLC3A | CYP1B1, GLC3A |
| 1 | GHDD | TBXAS1, GHOSAL, CYP5, BDPLT14 |
| 1 | HYDATIDIFORM MOLE | NALP7, NOD12, PYPAF3, HYDM |
| 1 | GO | GORAB, SCYL1BP1, NTKLBP1, GO |
| 1 | GELEOPHYSIC DYSPLASIA | ADAMTSL2, KIAA0605, GPHYSD1 |
| 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, MPS4B |
| 1 | GM1-GANGLIOSIDOSIS, TYPE II | GLB1, MPS4B |
| 1 | GM1-GANGLIOSIDOSIS, TYPE I | GLB1, MPS4B |
| 1 | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | GCLC, GLCLC |
| 1 | GALACTOSEMIA | GALT |
| 1 | GALACTOSE EPIMERASE DEFICIENCY | GALE |
| 1 | GALACTOKINASE DEFICIENCY | GALK1 |
| 1 | FUCOSIDOSIS | FUCA1 |
| 1 | FRUCTOSURIA | KHK |
| 1 | FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY | FBP1 |
| 1 | FRUCTOSE INTOLERANCE, HEREDITARY | ALDOB |
| 1 | FRDA | FXN, FRDA, FARR, X25 |
| 1 | BCS | ZNF469, KIAA1858, BCS |
| 1 | FORMIMINOTRANSFERASE DEFICIENCY | FTCD |
| 1 | FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED | FSHB |
| 1 | FOLATE MALABSORPTION, HEREDITARY | SLC46A1, HCP1, PCFT |
| 1 | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | KNG1, KNG |
| 1 | FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY | WNT7A |
| 1 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | GDF5, CDMP1, SYNS2, OS5 |
| 1 | FIBROMATOSIS, JUVENILE HYALINE | ANTXR2, CMG2, JHF, ISH |
| 1 | FIBROCHONDROGENESIS | COL11A1, STL2 |
| 1 | FERTILE EUNUCH SYNDROME | GNRHR, LHRHR |
| 1 | FARBER LIPOGRANULOMATOSIS | ASAH1, AC |
| 1 | FBS | SLC2A2, GLUT2 |
| 1 | FA | FANCA, FACA, FA1, FA, FAA |
| 1 | FANCD2 | FANCD2, FANCD, FACD, FAD |
| 1 | FANCC | FANCC, FACC |
| 1 | FACTOR X DEFICIENCY | F10 |
| 1 | FACTOR VII DEFICIENCY | F7 |
| 1 | FACTOR V DEFICIENCY | F5 |
| 1 | F5F8D | LMAN1, ERGIC53, F5F8D, MCFD1 |
| 1 | SHEP5 | SLC45A2, MATP, AIM1, SHEP5 |
| 1 | EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC | GNRH1, LNRH |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS | EIF2AK3, PEK, PERK, WRS |
| 1 | EDM4 | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY | PLEC1, PLEC, PLTN, EBS1, LGMD2Q |
| 1 | ENTEROKINASE DEFICIENCY | PRSS7, ENTK |
| 1 | EPV | FLVCR2, C14orf58, CCT, PVHH, EPV |
| 1 | PCH4 | TSEN54, SEN54, PCH2A, PCH4 |
| 1 | AGS1 | TREX1, AGS1, CRV, HERNS |
| 1 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE | ADAMTS2, NPI |
| 1 | EHLERS-DANLOS SYNDROME, TYPE VI | PLOD, PLOD1 |
| 1 | EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM | COL1A2 |
| 1 | SHFM6 | WNT10B, SHFM6 |
| 1 | EEM SYNDROME | CDH3, CDHP, PCAD, HJMD |
| 1 | CHNG5 | NKX2E, CSX, CHNG5 |
| 1 | ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE | ADAMTSL4, TSRC1 |
| 1 | CLPED1 | HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1 |
| 1 | SSPS | WNT10A, SSPS, STHAG4, OODD |
| 1 | EAR, PATELLA, SHORT STATURE SYNDROME | ORC1, ORC1L |
| 1 | DDSH | HSPG2, PLC, SJS, SJA, SJS1 |
| 1 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE | NOLA3, NOP10, DKCB1 |
| 1 | ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I | CDAN1, CDA1 |
| 1 | CDAN2 | SEC23B, CDAN2, HEMPAS |
| 1 | CHMRQ1 | VLDLR, CARMQ1 |
| 1 | HSAN3 | IKBKAP, IKAP |
| 1 | DMC | DYM, FLJ90130, DMC, SMC |
| 1 | DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL | DBH |
| 1 | LACTASE PERSISTENCE | MCM6 |
| 1 | LACTASE DEFICIENCY, CONGENITAL | LCT, LAC, LPH |
| 1 | CSID | SI |
| 1 | DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE | BPGM |
| 1 | RCDP2 | GNPAT, DHAPAT |
| 1 | DPYS | DPYS, DHP |
| 1 | DICARBOXYLICAMINO ACIDURIA | SLC1A1, EAAC1 |
| 1 | LPI | SLC7A7, LPI |
| 1 | DIASTROPHIC DYSPLASIA | SLC26A2, DTD, DTDST, D5S1708, EDM4 |
| 1 | DONNAI-BARROW SYNDROME | LRP2, DBS |
| 1 | WFS1 | WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL |
| 1 | CPHD3 | LHX3, CPHD3 |
| 1 | JLNS1 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 |
| 1 | RHUC1 | SLC22A12, OAT4L, URAT1 |
| 1 | D-GLYCERIC ACIDEMIA | GLYCTK, GLYCTK1 |
| 1 | LSFC | LRPPRC, LRP130, LSFC |
| 1 | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | CTNS |
| 1 | CTNS | CTNS |
| 1 | CYSTINOSIS, ADULT NONNEPHROPATHIC | CTNS |
| 1 | CYSTATHIONINURIA | CTH |
| 1 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA | ATP6V0A2, WSS, ARCL |
| 1 | PITUITARY ADENOMA, ACTH-SECRETING | AIP, XAP2, ARA9 |
| 1 | CRIGLER-NAJJAR SYNDROME | UGT1A1, UGT1, GNT1, BILIQTL1 |
| 1 | CHNG2 | PAX8 |
| 1 | BGS | RECQL4, RTS, RECQ4 |
| 1 | CRANIOECTODERMAL DYSPLASIA | IFT122, WDR10, CED |
| 1 | COSTELLO SYNDROME | HRAS |
| 1 | CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY | HSD11B2, HSD11K, AME |
| 1 | ACCPN | SLC12A6, KCC3A, KCC3B, KCC3, ACCPN |
| 1 | MCDC1 | CHST6, MCDC1 |
| 1 | CHED2 | SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4 |
| 1 | CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4 |
| 1 | CNA2 | KERA, CNA2 |
| 1 | PLASMINOGEN DEFICIENCY, TYPE I | PLG |
| 1 | JALILI SYNDROME | CNNM4, ACDP4 |
| 1 | COMPLEMENT COMPONENT 2 DEFICIENCY | C2 |
| 1 | COMPLEMENT COMPONENT C1r DEFICIENCY | C1R |
| 1 | ACHM2 | CNGA3, CNG3, ACHM2 |
| 1 | COH1 | COH1 |
| 1 | CSA | ERCC8, CKN1, CSA |
| 1 | CITRULLINEMIA, CLASSIC | ASS1, ASS |
| 1 | CHONDROSARCOMA | EXT1 |
| 1 | HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA | LBR, PHA |
| 1 | RCDP1 | PEX7, RCDP1 |
| 1 | BOCD | PTHR1, PTHR, PFE |
| 1 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 | AMACR, CBAS4, AMACRD |
| 1 | DIAR1 | SLC26A3, DRA, CLD |
| 1 | CHS | CHS1, LYST |
| 1 | GS1 | MYO5A, MYH12, GS1 |
| 1 | CMT4A | GDAP1, CMT4A, CMT2K, CMTRIA |
| 1 | COFS1 | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | CEREBROTENDINOUS XANTHOMATOSIS | CYP27A1, CYP27, CTX |
| 1 | JBTS | INPP5E, MORMS, JBTS1, CORS1 |
| 1 | CENANI SYNDACTYLISM | LRP4, MEGF7, CLSS, SOST2 |
| 1 | MARTSOLF SYNDROME | RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 |
| 1 | MCOPCT2 | SIX6, MCOPCT2 |
| 1 | CDSP | SLC22A5, OCTN2, CDSP, SCD |
| 1 | SLC25A20 | SLC25A20, CACT, CAC |
| 1 | CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | CARBOXYPEPTIDASE N DEFICIENCY | CPN1, SCPN, CPN |
| 1 | CDG2A | MGAT2, CDGS2, CDG2A |
| 1 | CDG1A | PMM2, CDG1A |
| 1 | CANDF2 | CARD9, CANDF2 |
| 1 | CALCIFICATION OF JOINTS AND ARTERIES | NT5E, NT5 |
| 1 | C SYNDROME | CD96, TACTILE |
| 1 | PFIC1 | ATP8B1, FIC1, BRIC, PFIC1 |
| 1 | BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS | C20orf54, RFT2, BVVLS |
| 1 | BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD | C20orf54, RFT2, BVVLS |
| 1 | BWCNS | EMG1, NEP1, C2F, BWCNS |
| 1 | BLM | RECQL3, RECQ2, BLM, BS |
| 1 | SHEP6 | SLC24A4, NCKX4, SHEP6 |
| 1 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | PCNT, PCNT2, KEN, SCKL4, MOPD2 |
| 1 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | RNU4ATAC, U4ATAC, MOPD1, TALS |
| 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 | APL | HR, AU, MUHH1 |
| 1 | ATRANSFERRINEMIA | TF, TFQTL1 |
| 1 | EAOH | APTX, AOA, AOA1 |
| 1 | AT | ATM, ATA, AT1 |
| 1 | RHPD | NPHP3, NPH3, RHPD, MKS7 |
| 1 | ASPARTYLGLUCOSAMINURIA | AGA |
| 1 | CACP | PRG4, CACP, MSF, SZP, HAPO |
| 1 | PPAC | WISP3, PPAC, PPD |
| 1 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS | VPS33B |
| 1 | ATS | SLC2A10, GLUT10, ATS |
| 1 | GACI | ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2 |
| 1 | ARGININOSUCCINIC ACIDURIA | ASL |
| 1 | ARGININEMIA | ARG1 |
| 1 | APOLIPOPROTEIN C-II DEFICIENCY | APOC2 |
| 1 | ABS | FGFR2, BEK, CFD1, JWS |
| 1 | MICROPHTHALMIA WITH LIMB ANOMALIES | SMOC1, OAS |
| 1 | MCOPS3 | SOX2, MCOPS3 |
| 1 | ANONYCHIA CONGENITA | RSPO4, CRISTIN4 |
| 1 | ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY | PAX6, AN2, MGDA |
| 1 | IRIDA | TMPRSS6, IRIDA |
| 1 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD | NRAMP2 |
| 1 | TGD | ABCA1, ABC1, HDLDT1, TGD |
| 1 | ALS2 | ALS2, ALSJ, PLSJ, IAHSP |
| 1 | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE | TACSTD2, TROP2, M1S1 |
| 1 | AI2A1 | KLK4, EMSP1, PRSS17, AI2A1 |
| 1 | AI1C | ENAM, AIH2, AI1C |
| 1 | CLN2 | TPP1, CLN2 |
| 1 | CLN4A | CLN6, CLN4A |
| 1 | CLN3 | CLN3, BTS |
| 1 | LCA2 | RPE65, RP20, LCA2 |
| 1 | LCA1 | GUCY2D, GUC2D, LCA1, CORD6, RCD2 |
| 1 | ALMS | ALMS1, ALSS, KIAA0328 |
| 1 | ALPHA-METHYLACETOACETIC ACIDURIA | ACAT1 |
| 1 | ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | OGDH |
| 1 | ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS | POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS |
| 1 | ALUNC | HR, AU, MUHH1 |
| 1 | ALKAPTONURIA | HGD, AKU |
| 1 | ALEXANDER DISEASE | GFAP |
| 1 | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | CYP11B2 |
| 1 | HPS | HPS1 |
| 1 | OCA3 | TYRP1, CAS2, GP75 |
| 1 | OCA1A | TYR, SHEP3, CMM8 |
| 1 | SCN1 | ELANE, ELA2, SCN1 |
| 1 | DYSGNATHIA COMPLEX | PRRX1, PMX1, PHOX1, AGOTC |
| 1 | ADCC | TP53, P53, LFS1 |
| 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 DEFICIENCY | CYP11B1, P450C11, FHI |
| 1 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYP21A2, CYP21, CA21H |
| 1 | 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF | HSD3B2 |
| 1 | POR DEFICIENCY | POR |
| 1 | LIPOID CONGENITAL ADRENAL HYPERPLASIA | STAR |
| 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, MEDIUM-CHAIN, DEFICIENCY OF | ACADM, MCAD |
| 1 | IAD | TBX19 |
| 1 | HSAN2A | WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 |
| 1 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | GDF5, CDMP1, SYNS2, OS5 |
| 1 | AEZ | SLC39A4, ZIP4 |
| 1 | CARPENTER SYNDROME | RAB23 |
| 1 | ACLS | KIF7, HLS2, ACLS, JBTS12 |
| 1 | ACID PHOSPHATASE DEFICIENCY | ACP2 |
| 1 | CHONDRODYSPLASIA, GREBE TYPE | GDF5, CDMP1, SYNS2, OS5 |
| 1 | ACG2 | COL2A1 |
| 1 | ACG1A | TRIP11, TRIP230, CEV14, ACG1A |
| 1 | ACHEIROPODY | LMBR1, ACHP, C7orf2, PPD2 |
| 1 | CHAC | VPS13A, CHAC |
| 1 | ABL | MTP |
| 1 | ZINC, ELEVATED PLASMA | ALB |
| 1 | WOOLLY HAIR, AUTOSOMAL DOMINANT | KRT74, K6IRS4, KRT6IRS4, HTSS2 |
| 1 | WOLFF-PARKINSON-WHITE SYNDROME | PRKAG2, WPWS, CMH6 |
| 1 | DDS | WT1, NPHS4 |
| 1 | WT2 | H19, D11S813E, ASM1, BWS, WT2 |
| 1 | DA2A | MYH3 |
| 1 | WHIM SYNDROME | CXCR4, D2S201E, NPY3R, WHIM |
| 1 | WEYERS ACROFACIAL DYSOSTOSIS | EVC |
| 1 | WATSON SYNDROME | NF1, VRNF, WSS, NFNS |
| 1 | WS2A | MITF, WS2A |
| 1 | WS1 | PAX3, WS1, HUP2, CDHS, WS3 |
| 1 | VON WILLEBRAND DISEASE | VWF, F8VWF |
| 1 | SVD | KCNJ13, SVD, LCA16 |
| 1 | VRCP | BEST1, VMD2, ARB, RP50 |
| 1 | ADHR | FGF23, ADHR, HPDR2, PHPTC |
| 1 | CVT | HOXD10, HOX4D |
| 1 | VENTRICULAR TACHYCARDIA, FAMILIAL | GNAI2, GNAI2B, GIP |
| 1 | LQT1 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 |
| 1 | VELOCARDIOFACIAL SYNDROME | TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 1 | VATER ASSOCIATION | HOXD13, HOX4I, SPD, BDSD |
| 1 | VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY | TREX1, AGS1, CRV, HERNS |
| 1 | MUCKLE-WELLS SYNDROME | NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | TRITANOPIA | OPN1SW, BCP, CBT |
| 1 | DOWN SYNDROME | GATA1, GF1, ERYF1, NFE1, XLTT |
| 1 | TRIGONOCEPHALY, NONSYNDROMIC | FGFR1, FLT2, KAL2, OGD |
| 1 | TRPS3 | TRPS1 |
| 1 | TRPS1 | TRPS1 |
| 1 | TRICHODENTOOSSEOUS SYNDROME | DLX3, TDO, AI4 |
| 1 | ETM1 | DRD3, ETM1, FET1 |
| 1 | WITKOP SYNDROME | MSX1, HOX7, HYD1, OFC5, STHAG1 |
| 1 | THYROTOXIC PERIODIC PARALYSIS | CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 |
| 1 | GRTH | THRB, ERBA2, THR1, PRTH |
| 1 | DGS | TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR |
| 1 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE | F5 |
| 1 | AITP | FCGR2C, CD32C |
| 1 | TD2 | FGFR3, ACH |
| 1 | TD1 | FGFR3, ACH |
| 1 | HHT | ENG, END, HHT1, ORW |
| 1 | BLAU SYNDROME | NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 |
| 1 | TCC | NOG, SYM1, SYNS1 |
| 1 | SYNS1 | NOG, SYM1, SYNS1 |
| 1 | SYNDACTYLY, TYPE V | HOXD13, HOX4I, SPD, BDSD |
| 1 | SYNDACTYLY, TYPE IV | LMBR1, ACHP, C7orf2, PPD2 |
| 1 | SYNDACTYLY, TYPE III | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | SPD1 | HOXD13, HOX4I, SPD, BDSD |
| 1 | SVAS | ELN |
| 1 | STOMATOCYTOSIS I | EPB72 |
| 1 | STIFF SKIN SYNDROME | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | STL3 | COL11A2, STL3, DFNA13, DFNB53 |
| 1 | STEATOCYSTOMA MULTIPLEX | KRT17, PC2, PCHC1 |
| 1 | STAPES ANKYLOSIS WITH BROAD THUMB AND TOES | NOG, SYM1, SYNS1 |
| 1 | SMDK | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE | COL2A1 |
| 1 | BRACHYOLMIA TYPE 2 | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | SEDC | COL2A1 |
| 1 | SCA2 | ATXN2, ATX2, SCA2 |
| 1 | SCA6 | CACNA1A, CACNL1A4, SCA6 |
| 1 | SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT | VAPB, VAPC, ALS8 |
| 1 | MYOPATHY, SPHEROID BODY | TTID, MYOT |
| 1 | SPH1 | ANK1, SPH2 |
| 1 | SPG4 | SPAST, SPG4 |
| 1 | SPG3A | ATL1, SPG3A, HSN1D |
| 1 | SMS | RAI1, SMCR, SMS |
| 1 | SMALL CELL CANCER OF THE LUNG | RB1 |
| 1 | SEPTOOPTIC DYSPLASIA | HESX1, RPX, CPHD5 |
| 1 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | KERATOSIS, SEBORRHEIC | PIK3CA |
| 1 | UMS | TBX3 |
| 1 | SPMM | MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD |
| 1 | AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE | DES, CMD1I |
| 1 | EDMD2 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | SALIVARY GLAND ADENOMA, PLEOMORPHIC | PLAG1, SGPA, PSA |
| 1 | SS1 | HLA-DRB1, SS1 |
| 1 | ALSG | FGF10 |
| 1 | SRS | H19, D11S813E, ASM1, BWS, WT2 |
| 1 | RSTS | CREBBP, CBP, RSTS |
| 1 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT | WNT5A |
| 1 | RDC | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | RIEG1 | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | RB1 | RB1 |
| 1 | RP10 | IMPDH1, RP10, LCA11 |
| 1 | RP9 | RP9 |
| 1 | RP1 | RP1, ORP1 |
| 1 | DDD | KRT5, DDD |
| 1 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT | SLC4A1, AE1, EPB3 |
| 1 | RAPH BLOOD GROUP SYSTEM | CD151, PETA3, SFA1, MER2 |
| 1 | PTOS1 | ZFHX4, ZFH4 |
| 1 | PSORS1 | HLA-C, PSORS1 |
| 1 | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE | ABCC6, ARA, ABC34, MLP1, PXE |
| 1 | PSEUDO-VON WILLEBRAND DISEASE | GP1BA, BSS, BDPLT1, VWDP, BDPLT3 |
| 1 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | NR3C2, MLR, MCR |
| 1 | PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK | DHS |
| 1 | XFS | LOXL1, LOXL |
| 1 | PSACH | COMP, EDM1, MED, PSACH |
| 1 | PROTOPORPHYRIA, ERYTHROPOIETIC | FECH, FCE |
| 1 | PROTEUS SYNDROME | AKT1 |
| 1 | THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT | PROC, PC |
| 1 | HGPS | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | FBD | ITM2B, BRI, ABRI, FBD |
| 1 | CURRARINO SYNDROME | MNX1, HLXB9, HOXHB9, SCRA1 |
| 1 | PCS | BUB1B, BUBR1 |
| 1 | PRECOCIOUS PUBERTY, MALE-LIMITED | LHCGR, LHR, LCGR |
| 1 | PRECOCIOUS PUBERTY, CENTRAL | KISS1R, GPR54 |
| 1 | PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS | HOXA13, HOX1J |
| 1 | PORPHYRIA, ACUTE INTERMITTENT | HMBS, PBGD, UPS |
| 1 | DSAP1 | SART3, P100, KIAA0156, TIP110, DSAP1 |
| 1 | PORENCEPHALY, FAMILIAL | COL4A1 |
| 1 | GCPS | GLI3, PAPA, PAPB |
| 1 | PJS | STK11, PJS, LKB1 |
| 1 | APC | APC, GS, FPC, BTPS2 |
| 1 | JPHT | MADH4, DPC4, SMAD4, JIP |
| 1 | HEPOD | TNFRSF11A, RANK, ODFR, OFE, OPTB7 |
| 1 | MAS | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 1 | POLYDACTYLY, PREAXIAL IV | GLI3, PAPA, PAPB |
| 1 | PPD2 | LMBR1, ACHP, C7orf2, PPD2 |
| 1 | POLYDACTYLY, POSTAXIAL, TYPE A1 | GLI3, PAPA, PAPB |
| 1 | POLYCYSTIC KIDNEYS | PKD1 |
| 1 | KINDLER SYNDROME | KIND1, URP1, C20orf42 |
| 1 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | FLCN, BHD |
| 1 | IGHD2 | GH1, GHN, IGHD1B |
| 1 | PPCRA | CRB1, RP12, LCA8 |
| 1 | PBT | SNAI2, SLUG, WS2D |
| 1 | MEN2A | RET, MEN2A, HSCR1 |
| 1 | THIOUREA TASTING | TAS2R38, T2R61, PTC |
| 1 | PERIODONTITIS, AGGRESSIVE, 1 | CTSC, CPPI, PALS, PLS, HMS, JPD |
| 1 | HOKPP | CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 |
| 1 | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 |
| 1 | PEPD | PEPD |
| 1 | BCPM | ATP2C1, BCPM, HHD |
| 1 | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT | LMNB1 |
| 1 | PHA | LBR, PHA |
| 1 | PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM | PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2 |
| 1 | CHAR SYNDROME | TFAP2B, CHAR |
| 1 | PERRY SYNDROME | DCTN1, HMN7B |
| 1 | PARK1 | SNCA, NACP, PARK1, PARK4 |
| 1 | PFMCCD | MSX2, CRS2, HOX8 |
| 1 | PFM | MSX2, CRS2, HOX8 |
| 1 | PARASTREMMATIC DWARFISM | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | PMC | SCN4A, HYPP, NAC1A, HOKPP2 |
| 1 | PGL1 | SDHD, PGL1 |
| 1 | PAND1 | COMT |
| 1 | PAROXYSMAL EXTREME PAIN DISORDER | SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP |
| 1 | IBMPFD | VCP, IBMPFD, ALS14 |
| 1 | OTOFACIOCERVICAL SYNDROME | EYA1, BOR |
| 1 | BUSCHKE-OLLENDORFF SYNDROME | LEMD3, MAN1 |
| 1 | OPTA2 | CLCN7, CLC7, OPTA2, OPTB4 |
| 1 | POH | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 1 | GDD | ANO5, TMEM16E, GDD1, LGMD2L |
| 1 | OGD | FGFR1, FLT2, KAL2, OGD |
| 1 | OSTEOGENESIS IMPERFECTA, TYPE I | COL1A1 |
| 1 | OD | ACAN, AGC1, CSPG1, MSK16, SEDK |
| 1 | OS1 | FRZB, FRZB1, SRFP3, OS1 |
| 1 | OPTIC NERVE HYPOPLASIA, BILATERAL | PAX6, AN2, MGDA |
| 1 | OPA1 | OPA1, NTG, NPG |
| 1 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT | OPA3, MGA3 |
| 1 | SCA7 | ATXN7, SCA7, OPCA3 |
| 1 | SCA1 | ATXN1, ATX1, SCA1 |
| 1 | OPMD | PABPN1, PABP2, PAB2 |
| 1 | FEINGOLD SYNDROME | MYCN, NMYC, ODED, MODED |
| 1 | ODDD | GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3 |
| 1 | NS1 | PTPN11, PTP2C, SHP2, NS1 |
| 1 | SSS2 | HCN4, SSS2 |
| 1 | CSNBAD2 | PDE6B, PDEB, RP40, CSNBAD2 |
| 1 | NEUTROPHILIA, HEREDITARY | CSF3R, GCSFR |
| 1 | CYCLIC HEMATOPOIESIS | ELANE, ELA2, SCN1 |
| 1 | HNPP | PMP22, CMT1A, CMT1E, DSS |
| 1 | HSAN1 | SPTLC1, LBC1, SPT1, HSN1, HSAN |
| 1 | CLN4B | DNAJC5, DNAJC5A, CSP, CLN4B |
| 1 | MEN2B | RET, MEN2A, HSCR1 |
| 1 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | NF1, VRNF, WSS, NFNS |
| 1 | NF1 | NF1, VRNF, WSS, NFNS |
| 1 | HNA | SEPT9, MSF, MSF1, NAPB |
| 1 | SCHWANNOMATOSIS | NF2 |
| 1 | HNFJ1 | UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 |
| 1 | NEM3 | ACTA1, ASMA, NEM3, NEM1, CFTD1 |
| 1 | NRCLP1 | HCRT, OX, NRCLP1 |
| 1 | NPS | LMX1B, NPS1 |
| 1 | NAEGELI SYNDROME | KRT14 |
| 1 | CNC1 | PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ADOHR |
| 1 | DYSTROPHIA MYOTONICA 1 | DMPK, DM, DMK |
| 1 | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | CLCN1 |
| 1 | MPD1 | MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD |
| 1 | EA1 | KCNA1, AEMK, EA1 |
| 1 | LGMD1B | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | LGMD1A | TTID, MYOT |
| 1 | HMN2A | HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A |
| 1 | CD | PTEN, MMAC1, GLM2 |
| 1 | MULLERIAN APLASIA AND HYPERANDROGENISM | WNT4, SERKAL |
| 1 | TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME | MYH8 |
| 1 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 | POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS |
| 1 | MIRROR MOVEMENTS, HEREDITARY | DCC |
| 1 | HPE2 | SIX3, HPE2 |
| 1 | KNIEST DYSPLASIA | COL2A1 |
| 1 | METATROPIC DYSPLASIA | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | MCDS | COL10A1 |
| 1 | METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE | PTHR1, PTHR, PFE |
| 1 | METACHONDROMATOSIS | PTPN11, PTP2C, SHP2, NS1 |
| 1 | MRD1 | MBD5, KIAA1461, MRD1 |
| 1 | MELORHEOSTOSIS | LEMD3, MAN1 |
| 1 | MELANOMA-ASTROCYTOMA SYNDROME | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | CMM2 | CDKN2A, MTS1, P16, MLM, CMM2 |
| 1 | CMM | PTEN, MMAC1, GLM2 |
| 1 | MHA | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | MARSHALL SYNDROME | COL11A1, STL2 |
| 1 | MFS | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | TCOF | TCOF1, MFD1, TCS1 |
| 1 | HOMG2 | FXYD2, ATP1G1, HOMG2 |
| 1 | ARMD2 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 |
| 1 | VMD | BEST1, VMD2, ARB, RP50 |
| 1 | BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT | GP1BA, BSS, BDPLT1, VWDP, BDPLT3 |
| 1 | EPSTEIN SYNDROME | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | FTNS | MYH9, MHA, FTNS, DFNA17, BDPLT6 |
| 1 | CHROMOSOME 5q DELETION SYNDROME | RPS14, EMTB |
| 1 | BRRS | PTEN, MMAC1, GLM2 |
| 1 | LYMPHEDEMA-DISTICHIASIS SYNDROME | FOXC2, FKHL14, MFH1 |
| 1 | LYMPHEDEMA, HEREDITARY, IA | FLT4, VEGFR3, PCL, LMPH1A |
| 1 | FPLD2 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B |
| 1 | LEUKONYCHIA TOTALIS | PLCD1, NDNC3 |
| 1 | PLSDT | COL2A1 |
| 1 | LEOPARD SYNDROME 1 | PTPN11, PTP2C, SHP2, NS1 |
| 1 | LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN | FH, HLRCC, MCUL1 |
| 1 | UL | HMGA2, HMGIC, BABL |
| 1 | LEGG-CALVE-PERTHES DISEASE | COL2A1 |
| 1 | STHAG4 | WNT10A, SSPS, STHAG4, OODD |
| 1 | LRS1 | FLNB, SCT, AOI, LRS1 |
| 1 | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | WS3 | PAX3, WS1, HUP2, CDHS, WS3 |
| 1 | PPKS1 | DSG1, PPKS1, SPPK1 |
| 1 | KERATODERMA, PALMOPLANTAR, WITH DEAFNESS | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | KTCN1 | VSX1, RINX, PPCD, PPD, KTCN1, CAASDS |
| 1 | KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | KERATITIS, HEREDITARY | PAX6, AN2, MGDA |
| 1 | KBG SYNDROME | ANKRD11, ANCO1, KBGS |
| 1 | KAPOSI SARCOMA | IL6, IFNB2, BSF2, HSF, HGF |
| 1 | KAL2 | FGFR1, FLT2, KAL2, OGD |
| 1 | KABUKI SYNDROME | MLL2, ALR |
| 1 | SPS | TBX4 |
| 1 | IVIC SYNDROME | SALL4, HSAL4 |
| 1 | ICP | ABCB4, PGY3, MDR3 |
| 1 | SMMCI | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | STAT3, APRF, HIES |
| 1 | ICHTHYOSIS, BULLOUS TYPE | KRT2, KRT2A, KRT2E |
| 1 | ICHTHYOSIS VULGARIS | FLG, ATOD2 |
| 1 | MUHH1 | HR, AU, MUHH1 |
| 1 | HYPOTRICHOSIS SIMPLEX OF SCALP | CDSN, HTSS1, PSS |
| 1 | PHS | GLI3, PAPA, PAPB |
| 1 | HYPOPHOSPHATASIA, ADULT | ALPL, HOPS, TNSALP |
| 1 | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE | GATA3, HDR, HDRS |
| 1 | HCH | FGFR3, ACH |
| 1 | HHC1 | CASR, HHC1, PCAR1, FIH, EIG8 |
| 1 | HYPERTHYROXINEMIA, FAMILIAL | TTR, PALB |
| 1 | PRTH | THRB, ERBA2, THR1, PRTH |
| 1 | MHS1 | RYR1, MHS, CCO |
| 1 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE | KITLG, MGF, SF, SCF, SHEP7 |
| 1 | HRPT2 | HRPT2, C1orf28 |
| 1 | HRPT1 | HRPT2, C1orf28 |
| 1 | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 |
| 1 | HYPERLIPOPROTEINEMIA, TYPE V | APOA5 |
| 1 | FCHL | LPL, LIPD, HDLCQ11 |
| 1 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B | APOB, FLDB, LDLCQ4 |
| 1 | HYPERCALCEMIA, IDIOPATHIC, OF INFANCY | CYP24A1, CYP24, HCAI |
| 1 | HCA2 | SAC, HCA2 |
| 1 | HYPERCHLORHIDROSIS, ISOLATED | CA12 |
| 1 | GILBERT SYNDROME | UGT1A1, UGT1, GNT1, BILIQTL1 |
| 1 | HYPERALPHALIPOPROTEINEMIA | CETP, HDLCQ10 |
| 1 | WGN1 | VCAN, CSPG2, WGN, WGN1, ERVR |
| 1 | HD | HTT, HD, IT15 |
| 1 | HUMEROSPINAL DYSOSTOSIS | CHST3, C6ST, C6ST1, HSD |
| 1 | HPE4 | TGIF, HPE4 |
| 1 | HPE3 | SHH, HPE3, HLP3, SMMCI, MCOPCB5 |
| 1 | HOS | TBX5 |
| 1 | ACNE INVERSA, FAMILIAL | NCSTN |
| 1 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | TNFRSF1A, TNFR1, TNFAR, FPF |
| 1 | HSCR1 | RET, MEN2A, HSCR1 |
| 1 | HEPATIC ADENOMAS, FAMILIAL | HNF1A, TCF1, MODY3, IDDM20 |
| 1 | FHM1 | CACNA1A, CACNL1A4, SCA6 |
| 1 | BFH | COL4A3 |
| 1 | OS2 | MATN3, EDM5, HOA, OS2 |
| 1 | HAWKINSINURIA | HPD |
| 1 | HASHIMOTO THYROIDITIS | CTLA4, IDDM12, CELIAC3, GRD4 |
| 1 | HAND-FOOT-UTERUS SYNDROME | HOXA13, HOX1J |
| 1 | AEXS | CYP19A1, CYP19, ARO |
| 1 | GPS | NBEAL2, KIAA0540, GPS, BDPLT4 |
| 1 | MNG1 | DICER1, HERNA, KIAA0928, MNG1 |
| 1 | GVM | GLML, GVM, VMGLOM |
| 1 | RENAL CYSTS AND DIABETES SYNDROME | HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 |
| 1 | IRID2 | PITX2, IDG2, RIEG1, RGS, IGDS2 |
| 1 | GTS | SLITRK1, KIAA1910, TTM |
| 1 | GSD | PRNP, PRIP |
| 1 | GASTRIC LYMPHOMA, PRIMARY | BCL10 |
| 1 | SFD | TIMP3, SFD |
| 1 | FECD1 | COL8A2, FECD1, PPCD2 |
| 1 | FRONTONASAL DYSPLASIA | ALX3, FND1 |
| 1 | FRASIER SYNDROME | WT1, NPHS4 |
| 1 | MENTAL RETARDATION, FRA12A TYPE | DIP2B, KIAA1463 |
| 1 | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME | PAX6, AN2, MGDA |
| 1 | FED | LCAT |
| 1 | FINGERPRINTS, ABSENCE OF | SMARCAD1, KIAA1122, ETL1, HEL1, ADERM |
| 1 | LAURIN-SANDROW SYNDROME | MIPOL1 |
| 1 | CFEOM1 | KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B |
| 1 | GINGF | SOS1, GINGF, GF1, HGF, NS4 |
| 1 | DESMOID DISEASE, HEREDITARY | APC, GS, FPC, BTPS2 |
| 1 | BHD | FLCN, BHD |
| 1 | FOP | ACVR1, ACVRLK2, ALK2, FOP |
| 1 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | MEFV, MEF, FMF |
| 1 | EVR1 | FZD4, EVR1 |
| 1 | EXOSTOSES, MULTIPLE, TYPE II | EXT2 |
| 1 | EXOSTOSES, MULTIPLE, TYPE I | EXT1 |
| 1 | CSB | ERCC6, CKN2, COFS1, CSB, ARMD5 |
| 1 | ERYTHERMALGIA, PRIMARY | SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP |
| 1 | AAT4 | MYH11, AAT4, FAA4 |
| 1 | MSSE | TGFBR1, ALK5, AAT5, LDS2A, LDS1A, MSSE |
| 1 | CYLINDROMATOSIS, FAMILIAL | CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS |
| 1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS | COL2A1 |
| 1 | EDM1 | COMP, EDM1, MED, PSACH |
| 1 | EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS | COL7A1 |
| 1 | EBS-MP | KRT5, DDD |
| 1 | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE | PLEC1, PLEC, PLTN, EBS1, LGMD2Q |
| 1 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | COL7A1 |
| 1 | DDEB | COL7A1 |
| 1 | TBDN | COL7A1 |
| 1 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | PDGFRB, PDGFR |
| 1 | CAMURATI-ENGELMANN DISEASE | TGFB1, DPD1, CED |
| 1 | MEN1 | MEN1 |
| 1 | AI3 | FAM83H, AI3 |
| 1 | EL2 | SPTA1, EL2, SPH3, HS3, HPP |
| 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 LENTIS, ISOLATED | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT | GJB6, CX30, DFNA3B, HED, ED2, DFNB1B |
| 1 | RHS | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | DYT12 | ATP1A3, DYT12, RDP |
| 1 | DRD | GCH1, DYT5, HPABH4B |
| 1 | EKD1 | PRRT2, PKC, DYT10, EKD1 |
| 1 | DYT1 | DYT1, TOR1A |
| 1 | DYX1 | DYX1C1, DYXC1, DYX1 |
| 1 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT | TERC, TRC3, TR, DKCA1 |
| 1 | DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 | ADAR, DRADA, DSH, DSRAD, IFI4, G1P1 |
| 1 | BASAL LAMINAR DRUSEN | HF1, CFH, HUS, ARMD4, AHUS1 |
| 1 | DHRD | EFEMP1, FBNL, DHRD |
| 1 | DIABETES MELLITUS, INSULIN-DEPENDENT, 2 | INS, MODY10, IDDM2 |
| 1 | MODY2 | GCK, HHF3 |
| 1 | MODY1 | HNF4A, TCF14, MODY1 |
| 1 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | AQP2 |
| 1 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | AVP, AVRP, VP |
| 1 | DPR | KRT14 |
| 1 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | DGI1 | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | MAFD1 | SLC6A3, DAT1 |
| 1 | DENTIN DYSPLASIA, TYPE II | DSPP, DPP, DGI1, DFNA39, DTDP2 |
| 1 | DRPLA | ATN1, DRPLA, HRS, NOD |
| 1 | PFE | PTHR1, PTHR, PFE |
| 1 | CADASIL | NOTCH3, CADASIL, CASIL |
| 1 | OPTIC ATROPHY 1 AND DEAFNESS | OPA1, NTG, NPG |
| 1 | DFNA1 | DIAPH1, DFNA1, LFHL1 |
| 1 | DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID |
| 1 | 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, LQT9 |
| 1 | CRS1 | TWIST1, ACS3, SCS, CRS1 |
| 1 | CMDD | ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD |
| 1 | CDHS | PAX3, WS1, HUP2, CDHS, WS3 |
| 1 | CDLS1 | NIPBL, CDLS1 |
| 1 | LCD1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | PPCD1 | VSX1, RINX, PPCD, PPD, KTCN1, CAASDS |
| 1 | CDGG1 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | CORNEAL DYSTROPHY, FLECK | PIKFYVE, PIP5K3 |
| 1 | EBMD | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD |
| 1 | CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER | UBIAD1, TERE1, SCCD |
| 1 | HCP | CPOX |
| 1 | EBN2 | KCNQ3, EBN2, BFNC2 |
| 1 | EBN1 | KCNQ2, EBN1, EIEE7, BFNS1 |
| 1 | CCA | FBN2, CCA |
| 1 | CORD2 | CRX, CORD2, CRD, LCA7 |
| 1 | COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF | C1NH, HAE1, HAE2, SERPING1 |
| 1 | LYNCH SYNDROME I | MSH2, COCA1, FCC1, HNPCC1 |
| 1 | COLOBOMA OF OPTIC NERVE | PAX6, AN2, MGDA |
| 1 | PAPILLORENAL SYNDROME | PAX2 |
| 1 | FCAS1 | NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1 |
| 1 | DIGITAL CLUBBING, ISOLATED CONGENITAL | HPGD, PGDH1 |
| 1 | CCF | PITX1, PTX1, BFT, POTX, CCF |
| 1 | CCD | RUNX2, CBFA1, PEBP2A1, AML3 |
| 1 | PPS | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | VWS | IRF6, VWS, LPS, PIT, PPS, OFC6 |
| 1 | PNKD1 | MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8 |
| 1 | BHC | NKX2-1, TITF1, NKX2A, TTF1 |
| 1 | CCAL2 | ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD |
| 1 | ALGS1 | JAG1, AGS, AHD |
| 1 | CHERUBISM | SH3BP2, CRPM |
| 1 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | PMP22, CMT1A, CMT1E, DSS |
| 1 | CMT1A | PMP22, CMT1A, CMT1E, DSS |
| 1 | CMT2A1 | KIF1B, CMT2A, CMT2A1, NBLST1 |
| 1 | CMT1B | MPZ, CMT1B, CMTDI3, CHM, DSS |
| 1 | KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT | GDF6, MCOP4, KFS1, MCOPCB6 |
| 1 | EAR WAX, WET/DRY | ABCC11, MRP8, EWWD, WW |
| 1 | SOTOS SYNDROME | NSD1, ARA267, STO |
| 1 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 | ITM2B, BRI, ABRI, FBD |
| 1 | SCA31 | BEAN, SCA31 |
| 1 | CENTRAL CORE DISEASE OF MUSCLE | RYR1, MHS, CCO |
| 1 | LAD | ITGB2, CD18, LCAMB, LAD |
| 1 | CCM | CCM1, CAM, KRIT1 |
| 1 | CATARACT, LAMELLAR | HSF4, CTM |
| 1 | CTPP1 | EPHA2, ECK, ARCC2, CTPP1, CTPA, ARCC2 |
| 1 | CZP1 | GJA8, CX50, CAE1 |
| 1 | CATARACT-MICROCORNEA SYNDROME | GJA8, CX50, CAE1 |
| 1 | CATARACT, CRYSTALLINE ACULEIFORM | CRYGD, CRYG4, CCP |
| 1 | CTS1 | TTR, PALB |
| 1 | PGL4 | SDHB, SDH2, SDHIP, PGL4 |
| 1 | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT | BCMO1, BCDO, BCO1 |
| 1 | RCM1 | TNNI3, CMH7, CMD2A, RCM1, CMD1FF |
| 1 | CMH4 | MYBPC3, CMH4 |
| 1 | CMH3 | TPM1, CMH3, CMD1Y |
| 1 | CMH2 | TNNT2, CMH2, CMD1D, RCM3, LVNC6 |
| 1 | CARDIAC CONDUCTION DEFECT | AKAP10 |
| 1 | CARCINOID TUMORS, INTESTINAL | SDHD, PGL1 |
| 1 | CAMPOMELIC DYSPLASIA | SOX9, CMD1, SRA1 |
| 1 | CAFFEY DISEASE | COL1A1 |
| 1 | BL | MYC |
| 1 | PFHB1A | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 |
| 1 | SHEP4 | SLC24A5, NCKX5, SHEP4 |
| 1 | BOR1 | EYA1, BOR |
| 1 | BOFS | TFAP2A, AP2TF, BOFS |
| 1 | BRACHYOLMIA TYPE 3 | TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1 |
| 1 | BDE | HOXD13, HOX4I, SPD, BDSD |
| 1 | BDD | HOXD13, HOX4I, SPD, BDSD |
| 1 | BDC | GDF5, CDMP1, SYNS2, OS5 |
| 1 | BDB1 | ROR2, BDB1, BDB, NTRKR2 |
| 1 | BOOMERANG DYSPLASIA | FLNB, SCT, AOI, LRS1 |
| 1 | YT | ACHE, YT |
| 1 | WR | SLC4A1, AE1, EPB3 |
| 1 | WD | SLC4A1, AE1, EPB3 |
| 1 | SC | ERMAP, SC, RD |
| 1 | RD | ERMAP, SC, RD |
| 1 | OK | BSG |
| 1 | LW | ICAM4, CD242, LW |
| 1 | LU | LU, AU, BCAM |
| 1 | INLU | KLF1, EKLF, INLU, HBFQTL6 |
| 1 | JK | SLC14A1, JK, UTE, UT1 |
| 1 | KEL | KEL |
| 1 | Ii | GCNT2 |
| 1 | FY | DARC, FY, GPD, WBCQ1 |
| 1 | DI | SLC4A1, AE1, EPB3 |
| 1 | CO | AQP1, CHIP28, CO |
| 1 | BPES | FOXL2, BPES, BPES1, PFRK, POF3 |
| 1 | AORTIC VALVE DISEASE | NOTCH1, TAN1 |
| 1 | BCNS | PTCH1, NBCCS, BCNS, HPE7 |
| 1 | MJD | ATXN3, MJD, SCA3 |
| 1 | SCRA | TEAD1, TCF13, REF1 |
| 1 | ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS | NKX2E, CSX, CHNG5 |
| 1 | AOIII | FLNB, SCT, AOI, LRS1 |
| 1 | AOI | FLNB, SCT, AOI, LRS1 |
| 1 | EA2 | CACNA1A, CACNL1A4, SCA6 |
| 1 | STL1 | COL2A1 |
| 1 | DA1 | TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 |
| 1 | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN | IL6, IFNB2, BSF2, HSF, HGF |
| 1 | ARVD1 | TGFB3 |
| 1 | TBS | SALL1, HSAL1, TBS |
| 1 | STHAG1 | MSX1, HOX7, HYD1, OFC5, STHAG1 |
| 1 | SPDA1 | HLA-B, SPDA1 |
| 1 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | AN | PAX6, AN2, MGDA |
| 1 | HAE | C1NH, HAE1, HAE2, SERPING1 |
| 1 | DBA | RPS19, DBA, DBA1 |
| 1 | FTDMND | C9orf72, FTDALS, ALSFTD |
| 1 | AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 | TRPM7, LTRPC7, CHAK |
| 1 | AMYLOIDOSIS, PRIMARY CUTANEOUS | OSMR, OSMRB, PLCA1 |
| 1 | AMYLOIDOSIS VII | TTR, PALB |
| 1 | AMYLOIDOSIS VI | CST3, ARMD11 |
| 1 | AMYLOIDOSIS, FINNISH TYPE | GSN |
| 1 | AI4 | DLX3, TDO, AI4 |
| 1 | AI1B | ENAM, AIH2, AI1C |
| 1 | ALZHEIMER DISEASE 2 | APOE, AD2, LPG, LDLCQ5 |
| 1 | ALTERNATING HEMIPLEGIA OF CHILDHOOD | ATP1A2, FHM2, MHP2 |
| 1 | GRA | CYP11B1, P450C11, FHI |
| 1 | PHP1A | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C |
| 1 | TIETZ SYNDROME | MITF, WS2A |
| 1 | ADULT SYNDROME | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 |
| 1 | ADENYLOSUCCINASE DEFICIENCY | ADSL |
| 1 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | PKLR, PK1 |
| 1 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADA |
| 1 | ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE | NOTCH2, AGS2, HJCYS |
| 1 | ACROMICRIC DYSPLASIA | FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD |
| 1 | AKV | ATP2A2, ATP2B, DAR |
| 1 | ACRODYSOSTOSIS | PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ADOHR |
| 1 | APERT SYNDROME | FGFR2, BEK, CFD1, JWS |
| 1 | NF2 | NF2 |
| 1 | ACH | FGFR3, ACH |
| 1 | ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM | CHRM3, EGBRS |