Genes:
A4GALT, AADAC, AARS2, ABCA1, ABCA10, ABCA12, ABCA13, ABCA3, ABCA4, ABCA7, ABCB1, ABCB11, ABCC11, ABCC3, ABCC4, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ACACB, ACADL, ACADS, ACADSB, ACAN, ACAT1, ACBD5, ACOX1, ACSF3, ACSL5, ACSM2B, ACTN2, ACTN3, ADA, ADAM12, ADAM17, ADAM19, ADAM33, ADAM7, ADAM9, ADAMTS16, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADC, ADCK3, ADCY10, ADCY3, ADCY6, ADCY9, ADH1C, ADH7, ADNP, ADRA1A, ADRA2A, ADRB2, ADTRP, AFF3, AGGF1, AGL, AGRN, AGXT2, AHR, AHSG, AICDA, AIP, AIPL1, AKAP13, AKAP9, AKR1C2, AL645922.1, ALAD, ALDH16A1, ALDH1A1, ALDH5A1, ALDH7A1, ALG1, ALG10B, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX15, ALOX5, ALOXE3, ALS2, ALS2CL, ALX4, AMACR, AMPD1, AMPD3, AMT, ANAPC1, ANK1, ANK2, ANK3, ANKH, ANKK1, ANKRD11, ANKRD26, ANKS1A, ANKS1B, ANO6, ANO7, ANXA11, AOAH, AP3B1, AP4B1, AP4E1, AP5Z1, APBA2, APBB3, APOA4, APOB, APOBEC3B, APOBEC3G, APOBEC3H, APOC4, APOE, APOL3, AQP2, AQP3, AQP7, ARFGEF2, ARHGAP24, ARHGAP9, ARHGEF10, ARHGEF11, ARHGEF12, ARHGEF7, ARID1A, ARL13B, ARMS2, ARSA, ARSB, ASAH1, ASAH2, ASCC3, ASCL1, ASIC3, ASL, ASPA, ASPM, ASTN2, ASXL1, ATF1, ATF5, ATF6, ATG7, ATIC, ATL1, ATM, ATN1, ATP10A, ATP13A4, ATP2A1, ATP2A3, ATP2B2, ATP5J2-PTCD1, ATP6V0A4, ATP6V1B1, ATP7B, ATP8A2, ATR, ATXN1, ATXN3, AVPR1A, AXIN1, AXIN2, B3GNT1, B3GNT3, B4GALT7, BAAT, BACE1, BAG3, BAG6, BANK1, BBS1, BBS12, BBS2, BBS4, BCAM, BCKDHB, BCL10, BCL2, BCL2L2-PABPN1, BCMO1, BCR, BDNF, BEST1, BFSP1, BICC1, BLK, BLM, BLNK, BLOC1S3, BMP1, BMP2, BMP4, BMPER, BMPR1A, BPI, BPIFA1, BRAF, BRCA2, BRD1, BRIP1, BRSK2, BSG, BSND, BTNL2, C10orf11, C1QA, C1R, C2, C3, C4B, C4BPA, C5, C7, C8B, C9orf72, CA6, CABIN1, CACNA1A, CACNA1C, CACNA1E, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CALHM1, CAMK4, CAMKK1, CAMKK2, CAMTA1, CAPN13, CAPN3, CARD14, CARD8, CASP10, CASP3, CASP8, CASP9, CASQ2, CASR, CAT, CATSPER1, CATSPER2, CATSPER4, CAV3, CBL, CBR3, CBX2, CC2D1A, CC2D2A, CCDC14, CCDC40, CCDC8, CCDC88C, CCHCR1, CCL13, CCL3L1, CCND1, CCPG1, CCR2, CCRL2, CD14, CD151, CD177, CD19, CD1E, CD207, CD22, CD27, CD36, CD38, CD3E, CD3EAP, CD44, CD81, CD86, CD96, CDAN1, CDC42BPB, CDC6, CDH12, CDH13, CDH15, CDH23, CDH8, CDHR1, CDK11A, CDK5RAP2, CDKN1A, CDKN1B, CDON, CDSN, CDT1, CEL, CELSR1, CENPJ, CEP152, CEP63, CEP68, CERKL, CFB, CFH, CFHR2, CFHR3, CFHR4, CFLAR, CFTR, CHAT, CHD1L, CHD3, CHD6, CHD7, CHD8, CHDH, CHFR, CHGA, CHGB, CHI3L1, CHIA, CHL1, CHRFAM7A, CHRNA2, CHRNA4, CHRNA7, CHRNA9, CHRND, CHRNE, CHRNG, CHST3, CHSY1, CHUK, CIB2, CIC, CIDEA, CIDEC, CIITA, CISH, CKM, CLCA1, CLCN1, CLCNKB, CLEC11A, CLEC2D, CLEC4M, CLN5, CLOCK, CLPTM1, CLTCL1, CMPK1, CNDP1, CNGA1, CNGB1, CNGB3, CNKSR1, CNNM2, CNOT3, CNTN4, CNTNAP2, COCH, COG4, COG5, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A2, COL25A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A1, COL6A1, COL6A2, COL6A3, COL6A5, COL7A1, COL8A2, COL9A2, COL9A3, COLEC11, COMT, COQ2, COQ4, COQ5, CORIN, CORO1A, COX10, COX6B1, CPA4, CPB2, CPLX2, CPS1, CPT1A, CPT1B, CPZ, CR1, CR2, CRBN, CREB3L3, CRELD1, CRH, CRTAP, CRYAA, CRYBA1, CRYBB2, CRYGD, CRYM, CSDE1, CSF2, CSF2RB, CSF3R, CSGALNACT1, CSMD1, CSMD3, CSNK2A3, CSTA, CTC1, CTDP1, CTNNA3, CTNS, CTSB, CTSK, CTSZ, CTTNBP2, CUBN, CUL7, CX3CR1, CXCL16, CYB5A, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A2, CYP24A1, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP2D7P, CYP2F1, CYP2W1, CYP3A7, CYP4A22, CYP4B1, CYP4F12, CYP4F2, CYP4V2, D2HGDH, DAG1, DAPK1, DAZL, DCAF17, DCDC2, DCLK1, DCLRE1C, DCP1B, DCTD, DDAH2, DDOST, DDR1, DDR2, DDX11, DDX20, DDX58, DEAF1, DEC1, DFNA5, DFNB31, DGCR14, DGCR2, DGCR8, DGUOK, DHCR7, DHODH, DHX16, DHX36, DHX37, DIAPH3, DIO2, DIP2A, DIP2B, DISC1, DKK2, DKK3, DLGAP2, DLX3, DMBT1, DMGDH, DMPK, DMXL1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAH9, DNAJA4, DNAJC6, DNASE1, DND1, DNM1, DNM2, DNMT1, DNMT3A, DOCK4, DOCK6, DOCK8, DOCK9, DOK7, DPYD, DPYSL2, DRD2, DRD4, DROSHA, DSC2, DSC3, DSCAM, DSG1, DSG2, DSG4, DSP, DST, DUOX2, DYM, DYNC2H1, DYX1C1, EARS2, ECM1, EDAR, EDARADD, EDN3, EDRF1, EEF2K, EFHC1, EFTUD2, EGF, EGFR, EGLN1, EHMT1, EHMT2, EIF2AK3, EIF2B5, EIF4G1, ELAVL2, ELN, ELOVL4, ELP2, EME1, EMX2, EN2, ENG, ENO3, ENPP1, EP300, EPHA2, EPHA3, EPHA5, EPHA7, EPHX1, EPM2A, ERBB4, ERCC1, ERCC4, ESR1, ESR2, ESRRB, ETFB, EVC, EVC2, EVI5, EXO1, EXOC4, EXOSC3, EXT1, EYA1, EYA4, EYS, F10, F2RL1, F5, FAAH, FABP2, FABP6, FAH, FAM126A, FAM134B, FAM161A, FAM20A, FAM83H, FAM8A1, FANCA, FANCD2, FANCE, FANCG, FANCI, FASN, FBN2, FBN3, FBXO18, FBXO7, FBXW4, FCAR, FCER2, FCGR2A, FCGR3A, FCGRT, FCN3, FCRL3, FDFT1, FECH, FFAR1, FGA, FGD3, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FIG4, FLCN, FLNC, FLT1, FLT4, FLVCR2, FMN1, FMN2, FMO2, FMO3, FMO6P, FN1, FN3K, FOLH1, FOXA1, FOXA3, FOXC1, FOXD3, FOXN1, FPGS, FPR1, FRA10AC1, FRAS1, FREM1, FREM2, FRG1, FRK, FRMD6, FRY, FSHB, FSHR, FTCD, FUS, FUT3, G6PC2, GAA, GABBR1, GABRD, GABRG1, GABRG2, GABRR2, GAD1, GAK, GALC, GALNS, GALNT2, GALNT9, GALP, GAS2L2, GATA2, GBE1, GCDH, GCGR, GCKR, GCM2, GCNT2, GDAP1, GDF15, GDF3, GDF5, GEMIN4, GFAP, GFPT2, GGCX, GGT5, GHRL, GHSR, GIF, GIP, GIT1, GJA3, GJB2, GJB3, GJB4, GJC2, GJD2, GLB1, GLCCI1, GLDC, GLI1, GLI2, GLI3, GLIS2, GLIS3, GLP1R, GLRX5, GLTSCR1, GLUD1, GNAI2, GNAS, GNPAT, GOLGA3, GON4L, GOT1, GP1BA, GP6, GPANK1, GPATCH8, GPC3, GPC6, GPI, GPIHBP1, GPR1, GPR139, GPR179, GPR55, GPR56, GPR68, GPR98, GPSM2, GPX1, GPX4, GRIK2, GRIK4, GRIN2A, GRIN2B, GRIN3A, GRK5, GRM1, GRM6, GRM7, GSE1, GSN, GSTO1, GSTO2, GSTT2, GSTT2B, GSTZ1, GTF2E1, GTF2IRD1, GYPB, GYPC, GYS1, GYS2, H6PD, HABP2, HAL, HAS1, HAVCR1, HBEGF, HBS1L, HCLS1, HCN4, HDAC4, HDAC9, HELQ, HEPACAM, HERC2, HES6, HES7, HEXA, HEXB, HGD, HIBCH, HK1, HK2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DQA1, HLA-DRB1, HLA-DRB5, HLA-E, HLA-G, HLX, HMCN1, HMGCR, HMHA1, HNF1A, HNF1B, HNMT, HOGA1, HOXA13, HOXB13, HOXD13, HPS1, HPS3, HPS4, HPS6, HR, HRG, HS1BP3, HSD17B1, HSD17B2, HSD17B4, HSD3B1, HSPA8, HSPA9, HTN3, HTR1B, HTR2A, HTR3C, HTR5A, HTRA1, HUS1B, HYDIN, HYLS1, ICAM5, IDO1, IDUA, IFI44L, IFIH1, IFITM3, IFNAR2, IFNGR1, IFT80, IGF1R, IGF2R, IGFALS, IGFBP1, IGHA1, IGHMBP2, IHH, IKBIP, IKBKAP, IL10RB, IL17RA, IL17RB, IL17REL, IL18R1, IL19, IL1A, IL2, IL21, IL23R, IL3, IL31RA, IL7, IL7R, ILDR1, ILK, IMMP2L, IMPA2, IMPDH1, INF2, INSL3, INSL6, INSR, IQCB1, IQGAP1, IQGAP2, IQSEC2, IRAK3, IRF2, IRF4, IRF5, IRF6, IRF7, IRF8, IRS2, IRX4, ITGA11, ITGA2B, ITGA3, ITGA4, ITGA7, ITGA9, ITGAE, ITGAM, ITGB4, ITIH1, ITIH3, ITM2B, ITPA, ITPKC, ITPR1, ITPR3, IYD, JAG1, JAK2, JMJD1C, JPH2, JPH3, JUP, KALRN, KANK1, KANSL1, KARS, KAT6B, KATNAL2, KCNC3, KCNH2, KCNIP4, KCNJ1, KCNJ11, KCNJ15, KCNJ6, KCNJ9, KCNK18, KCNK6, KCNMB1, KCNMB3, KCNN3, KCNQ1, KCNQ2, KCNQ4, KCTD7, KDM4C, KDM5A, KDM6B, KDR, KEL, KIAA0196, KIAA1377, KIAA1432, KIAA1462, KIF17, KIF18A, KIF1A, KIF1B, KIR2DL1, KIR2DL4, KIRREL3, KISS1, KL, KLB, KLF11, KLHL1, KLHL3, KLHL7, KLK15, KLK7, KLRK1, KMT2C, KRIT1, KRT1, KRT2, KRT3, KRT37, KRT38, KRT5, KRT6B, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, KRTAP1-1, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB3, LAMC1, LAMC3, LARGE, LARS2, LBP, LCA5, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LEPREL1, LFNG, LGALS3, LHCGR, LHX3, LHX4, LIFR, LIG1, LINS, LIPC, LIPE, LIPI, LMAN1, LMF1, LMNB2, LMTK3, LMX1B, LNX2, LOR, LOXHD1, LOXL1, LOXL2, LPA, LPIN1, LPP, LRCH1, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC4, LRRC6, LRRC8A, LRRK2, LRSAM1, LTA, LTBP2, LTF, LTK, LTN1, LUM, MAD1L1, MAK, MAN2B1, MANBA, MAP2K2, MAP2K3, MAP3K1, MAP6, MAPK8IP1, MASP2, MAST4, MASTL, MAT1A, MATN3, MAVS, MBD1, MC1R, MC4R, MCEE, MCM3AP, MCOLN1, MCPH1, MED13, MED17, MED25, MEF2A, MEFV, MEGF11, MEN1, MERTK, MET, MFF, MFGE8, MFI2, MFRP, MGAT1, MIA3, MICB, MIIP, MKKS, MKL1, MLC1, MLH3, MLXIPL, MMAB, MME, MMEL1, MMP1, MMP14, MMP20, MMP7, MMP8, MMP9, MNX1, MOCOS, MOG, MOK, MPDZ, MPHOSPH8, MPP4, MPP7, MR1, MRC1, MRC1L1, MRPL3, MS4A12, MS4A3, MS4A6A, MS4A6E, MSH3, MSH4, MSH5, MSR1, MST1, MSX1, MT1A, MTCH2, MTHFD1, MTHFR, MTR, MTRR, MTTP, MTUS1, MUC1, MUC13, MUC2, MUC3A, MUC4, MUC5B, MUC7, MURC, MUT, MVK, MX1, MYBL2, MYH11, MYH13, MYH14, MYH15, MYH2, MYH3, MYH6, MYH8, MYLK, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYO7B, MYO9B, MYOC, MYOM1, MYPN, MYT1, NAGS, NAPRT1, NAT2, NAV2, NBAS, NBEA, NBEAL2, NBN, NBPF1, NCAM1, NCF4, NCKAP1, NCOA3, NCR3, NDN, NDUFAF2, NDUFAF4, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFV3, NEB, NEDD4L, NEDD9, NELL1, NEUROG3, NFATC4, NFIA, NFKB1, NFKBIA, NFU1, NGF, NID1, NINJ1, NIPA1, NIPSNAP1, NIPSNAP3A, NKX2-3, NKX2-6, NKX3-1, NLGN2, NLRP1, NLRP14, NLRP2, NLRX1, NME8, NMU, NODAL, NOP56, NOS1, NOS1AP, NOS2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPAP1, NPAS2, NPAT, NPC1, NPC1L1, NPHP1, NPHP3, NPHP4, NPPA, NPSR1, NPY, NPY2R, NQO1, NQO2, NR1I3, NR3C1, NR3C2, NRG1, NRIP1, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSUN2, NSUN7, NT5C1B, NT5C3A, NTF3, NTNG1, NTRK1, NUAK1, NUDT1, NUDT6, NUMBL, NUP155, NUP62, NXNL1, OAS2, OBSCN, OCA2, OLFM2, OPN1SW, OPN4, OPRK1, OPRM1, OPTC, OPTN, OR13G1, OR7D4, ORAI1, OSMR, OTOA, OTOF, OVGP1, P2RX1, P2RX5, P2RX7, P2RY12, PAK7, PALM2-AKAP2, PANK2, PARD3B, PARK2, PARP1, PARP2, PASK, PAWR, PAX2, PAX4, PAX7, PCCA, PCDH18, PCDH9, PCDHA10, PCDHA13, PCDHB4, PCK1, PCMT1, PCNT, PCOLCE, PCSK2, PDE4B, PDGFRA, PDHB, PDHX, PDLIM5, PDPK1, PDXK, PEAR1, PECR, PENK, PEPD, PER1, PER2, PER3, PEX10, PEX14, PEX16, PEX6, PFAS, PFN1, PGAM5, PGC, PGM1, PHF11, PHKG2, PHLPP2, PHOX2B, PIEZO2, PIGN, PIGO, PIGR, PIK3C2G, PIK3CA, PIK3CD, PIK3CG, PIK3R1, PIK3R4, PIP4K2A, PIP5K1C, PITPNM3, PITX1, PIWIL3, PKD1, PKD1L1, PKD2, PKHD1, PKM, PKP1, PKP2, PLA2G4C, PLAU, PLCB1, PLCE1, PLCG2, PLD2, PLEC, PLEKHG4, PLG, PLOD1, PLXND1, PNMT, PNP, PNPLA1, PNPLA2, PNPLA3, POGZ, POLG, POMT1, POMT2, PON2, PON3, POR, POU3F4, POU5F1, POU5F1B, POU6F2, PPAN-P2RY11, PPARG, PPIA, PPIG, PPP1R3A, PRCP, PRDM2, PRDM9, PRKAG3, PRKCB, PRKCG, PRKCH, PRKD3, PRKDC, PRKRA, PRL, PRM1, PRMT7, PROC, PRODH, PROK1, PROKR1, PROKR2, PROP1, PROS1, PRPH2, PRRC2A, PRRT2, PRSS1, PRSS12, PSCA, PSMB8, PSMB9, PSMC3IP, PSPH, PTCH1, PTCHD3, PTF1A, PTGDR, PTGER2, PTGS2, PTPN1, PTPN14, PTPN21, PTPRB, PTPRD, PTPRF, PTPRJ, PTPRK, PTPRO, PTPRQ, PTPRT, PVR, PVRL1, PVRL3, PXDN, PYCRL, PYY, PZP, RAB11FIP5, RAB23, RAB3GAP1, RABGGTA, RABL6, RAD21, RAD21L1, RAD54B, RAD9A, RAET1L, RAI1, RALGAPA1, RANBP2, RAPSN, RARS2, RASSF1, RAX, RB1CC1, RBM15, RBP3, RELN, REN, REV3L, RFX2, RFXANK, RGS9BP, RHBDF2, RHCE, RHPN2, RIN2, RIPK4, RMI1, RNASET2, RNF139, RNF168, RNF213, ROBO1, ROBO3, ROR2, ROS1, RP1, RP11-145E5.5, RP1L1, RPE65, RPGRIP1, RPGRIP1L, RPH3AL, RPL11, RPTOR, RUNX3, RXFP2, RXRG, RYK, RYR1, RYR2, RYR3, S100B, SAA1, SAA2, SACS, SAG, SALL4, SART1, SART3, SBNO1, SCAP, SCARB1, SCARF2, SCN10A, SCN1B, SCN3A, SCN5A, SCN8A, SCN9A, SCNN1G, SCO1, SCRIB, SDC3, SDCCAG8, SDHA, SDHD, SEC23A, SEC23B, SEL1L, SELE, SELP, SELPLG, SEMA3E, SEMA4C, SEMA4G, SEMA6D, SEPN1, SEPT12, SEPT9, SERPINA1, SERPINA10, SERPINA3, SERPINB5, SERPINB6, SERPINC1, SERPINF2, SERPINH1, SERPINI2, SERTAD1, SETBP1, SETD8, SETDB2, SETX, SEZ6, SEZ6L2, SGCG, SGK1, SGK223, SGSH, SH2B1, SH3PXD2B, SHANK3, SHMT1, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGMAR1, SIL1, SIM1, SIRT1, SIX3, SIX5, SIX6, SKIV2L, SLC11A2, SLC12A1, SLC12A3, SLC13A2, SLC15A1, SLC16A12, SLC17A1, SLC17A3, SLC18A1, SLC20A2, SLC22A1, SLC22A4, SLC22A5, SLC22A9, SLC24A1, SLC24A2, SLC25A13, SLC25A15, SLC25A19, SLC25A22, SLC25A38, SLC26A1, SLC26A3, SLC26A6, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A3, SLC29A4, SLC2A2, SLC2A9, SLC30A5, SLC30A8, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC41A1, SLC45A2, SLC47A2, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC5A7, SLC6A11, SLC6A12, SLC6A18, SLC6A19, SLC6A2, SLC6A3, SLC6A5, SLC7A10, SLC7A7, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLCO2B1, SLIT3, SLX4, SMAD3, SMAD7, SMARCA2, SMARCA4, SMARCAD1, SMC1B, SMG6, SMOC2, SMPD1, SMYD3, SNRNP200, SNTG2, SNX19, SOD3, SOHLH1, SORCS1, SORL1, SP100, SP110, SPAG16, SPAG17, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPRN, SPRR3, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN5, SRD5A3, SREBF2, SRGAP2, SRP72, ST14, ST5, STAT5B, STEAP3, STEAP4, STIL, STIM1, STK10, STK39, STRA6, STRC, STX16, STXBP5, SUFU, SUGCT, SULT1A1, SULT1A3, SUMO4, SUN2, SURF1, SYNE1, SYNE2, SYNM, SYT2, T, TAB2, TAC3, TAF2, TAL1, TAP2, TAPBP, TAS1R1, TAS1R2, TAS2R16, TAS2R19, TAS2R3, TAS2R43, TAS2R46, TAS2R50, TBC1D1, TBC1D4, TBX1, TBX15, TBX2, TBX20, TBX4, TBXAS1, TCF21, TCF7, TCN2, TCTE1, TCTE3, TDRD7, TECTA, TEK, TENM4, TEP1, TERT, TET1, TEX14, TF, TFB1M, TFPI, TFRC, TG, TGFBR2, TGFBRAP1, TGIF1, TGM1, TGM6, THADA, THBD, THBS1, THBS2, THSD7A, TICAM1, TIMP2, TIMP3, TJP2, TLK1, TLR1, TLR10, TLR5, TLR9, TM4SF19, TMC6, TMEM135, TMEM173, TMEM2, TMEM216, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TNC, TNFAIP2, TNFRSF10A, TNFRSF10B, TNFRSF11A, TNFRSF4, TNFSF10, TNFSF11, TNFSF15, TNKS, TNNT2, TNNT3, TNR, TNXB, TOMM40, TOP1MT, TOPBP1, TOPORS, TP53, TP53BP1, TP53RK, TPCN2, TPH2, TPMT, TPO, TPP1, TPTE, TRAK2, TRDN, TREX1, TRIM17, TRIM21, TRIM22, TRIO, TRIOBP, TRIP11, TRIP12, TRPA1, TRPM1, TRPM3, TRPM6, TRPM7, TRPV1, TRPV3, TRPV4, TSEN34, TSEN54, TSFM, TSHR, TSHZ1, TSPO, TSPYL1, TSSC4, TTBK2, TTC37, TTI2, TTN, TUBA8, TUBB1, TULP1, TYK2, UBD, UBE3C, UBR1, UBR3, UCP2, UCP3, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT2A3, UGT2B15, UMOD, UNC13D, UPB1, UPK3A, UQCRB, USH1C, USH2A, USP15, UTF1, UTRN, UTS2, UVSSA, VANGL1, VCAN, VCL, VCX3A, VDR, VIMP, VPS13A, VPS13B, VSX1, VSX2, VTN, VWF, WAS, WASF3, WDFY4, WDR35, WDR4, WDR45B, WDR62, WDR65, WDR72, WDR81, WFS1, WISP3, WNK1, WNT7A, WRAP53, WRN, WT1, WWC1, XDH, XPC, XRCC1, XRCC4, XYLT2, YBX2, ZAN, ZBTB18, ZBTB40, ZBTB41, ZC3H3, ZC3HAV1, ZDHHC8, ZEB1, ZFAT, ZFHX3, ZFHX4, ZFP57, ZFP90, ZFPM2, ZFYVE27, ZMPSTE24, ZNF202, ZNF335, ZNF365, ZNF385B, ZNF526, ZNF750, ZNF804A,
A4GALT, AADAC, AARS2, ABCA1, ABCA10, ABCA12, ABCA13, ABCA3, ABCA4, ABCA7, ABCB1, ABCB11, ABCC11, ABCC3, ABCC4, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ACACB, ACADL, ACADS, ACADSB, ACAN, ACAT1, ACBD5, ACOX1, ACSF3, ACSL5, ACSM2B, ACTN2, ACTN3, ADA, ADAM12, ADAM17, ADAM19, ADAM33, ADAM7, ADAM9, ADAMTS16, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADC, ADCK3, ADCY10, ADCY3, ADCY6, ADCY9, ADH1C, ADH7, ADNP, ADRA1A, ADRA2A, ADRB2, ADTRP, AFF3, AGGF1, AGL, AGRN, AGXT2, AHR, AHSG, AICDA, AIP, AIPL1, AKAP13, AKAP9, AKR1C2, AL645922.1, ALAD, ALDH16A1, ALDH1A1, ALDH5A1, ALDH7A1, ALG1, ALG10B, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX15, ALOX5, ALOXE3, ALS2, ALS2CL, ALX4, AMACR, AMPD1, AMPD3, AMT, ANAPC1, ANK1, ANK2, ANK3, ANKH, ANKK1, ANKRD11, ANKRD26, ANKS1A, ANKS1B, ANO6, ANO7, ANXA11, AOAH, AP3B1, AP4B1, AP4E1, AP5Z1, APBA2, APBB3, APOA4, APOB, APOBEC3B, APOBEC3G, APOBEC3H, APOC4, APOE, APOL3, AQP2, AQP3, AQP7, ARFGEF2, ARHGAP24, ARHGAP9, ARHGEF10, ARHGEF11, ARHGEF12, ARHGEF7, ARID1A, ARL13B, ARMS2, ARSA, ARSB, ASAH1, ASAH2, ASCC3, ASCL1, ASIC3, ASL, ASPA, ASPM, ASTN2, ASXL1, ATF1, ATF5, ATF6, ATG7, ATIC, ATL1, ATM, ATN1, ATP10A, ATP13A4, ATP2A1, ATP2A3, ATP2B2, ATP5J2-PTCD1, ATP6V0A4, ATP6V1B1, ATP7B, ATP8A2, ATR, ATXN1, ATXN3, AVPR1A, AXIN1, AXIN2, B3GNT1, B3GNT3, B4GALT7, BAAT, BACE1, BAG3, BAG6, BANK1, BBS1, BBS12, BBS2, BBS4, BCAM, BCKDHB, BCL10, BCL2, BCL2L2-PABPN1, BCMO1, BCR, BDNF, BEST1, BFSP1, BICC1, BLK, BLM, BLNK, BLOC1S3, BMP1, BMP2, BMP4, BMPER, BMPR1A, BPI, BPIFA1, BRAF, BRCA2, BRD1, BRIP1, BRSK2, BSG, BSND, BTNL2, C10orf11, C1QA, C1R, C2, C3, C4B, C4BPA, C5, C7, C8B, C9orf72, CA6, CABIN1, CACNA1A, CACNA1C, CACNA1E, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CALHM1, CAMK4, CAMKK1, CAMKK2, CAMTA1, CAPN13, CAPN3, CARD14, CARD8, CASP10, CASP3, CASP8, CASP9, CASQ2, CASR, CAT, CATSPER1, CATSPER2, CATSPER4, CAV3, CBL, CBR3, CBX2, CC2D1A, CC2D2A, CCDC14, CCDC40, CCDC8, CCDC88C, CCHCR1, CCL13, CCL3L1, CCND1, CCPG1, CCR2, CCRL2, CD14, CD151, CD177, CD19, CD1E, CD207, CD22, CD27, CD36, CD38, CD3E, CD3EAP, CD44, CD81, CD86, CD96, CDAN1, CDC42BPB, CDC6, CDH12, CDH13, CDH15, CDH23, CDH8, CDHR1, CDK11A, CDK5RAP2, CDKN1A, CDKN1B, CDON, CDSN, CDT1, CEL, CELSR1, CENPJ, CEP152, CEP63, CEP68, CERKL, CFB, CFH, CFHR2, CFHR3, CFHR4, CFLAR, CFTR, CHAT, CHD1L, CHD3, CHD6, CHD7, CHD8, CHDH, CHFR, CHGA, CHGB, CHI3L1, CHIA, CHL1, CHRFAM7A, CHRNA2, CHRNA4, CHRNA7, CHRNA9, CHRND, CHRNE, CHRNG, CHST3, CHSY1, CHUK, CIB2, CIC, CIDEA, CIDEC, CIITA, CISH, CKM, CLCA1, CLCN1, CLCNKB, CLEC11A, CLEC2D, CLEC4M, CLN5, CLOCK, CLPTM1, CLTCL1, CMPK1, CNDP1, CNGA1, CNGB1, CNGB3, CNKSR1, CNNM2, CNOT3, CNTN4, CNTNAP2, COCH, COG4, COG5, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A2, COL25A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A1, COL6A1, COL6A2, COL6A3, COL6A5, COL7A1, COL8A2, COL9A2, COL9A3, COLEC11, COMT, COQ2, COQ4, COQ5, CORIN, CORO1A, COX10, COX6B1, CPA4, CPB2, CPLX2, CPS1, CPT1A, CPT1B, CPZ, CR1, CR2, CRBN, CREB3L3, CRELD1, CRH, CRTAP, CRYAA, CRYBA1, CRYBB2, CRYGD, CRYM, CSDE1, CSF2, CSF2RB, CSF3R, CSGALNACT1, CSMD1, CSMD3, CSNK2A3, CSTA, CTC1, CTDP1, CTNNA3, CTNS, CTSB, CTSK, CTSZ, CTTNBP2, CUBN, CUL7, CX3CR1, CXCL16, CYB5A, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A2, CYP24A1, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP2D7P, CYP2F1, CYP2W1, CYP3A7, CYP4A22, CYP4B1, CYP4F12, CYP4F2, CYP4V2, D2HGDH, DAG1, DAPK1, DAZL, DCAF17, DCDC2, DCLK1, DCLRE1C, DCP1B, DCTD, DDAH2, DDOST, DDR1, DDR2, DDX11, DDX20, DDX58, DEAF1, DEC1, DFNA5, DFNB31, DGCR14, DGCR2, DGCR8, DGUOK, DHCR7, DHODH, DHX16, DHX36, DHX37, DIAPH3, DIO2, DIP2A, DIP2B, DISC1, DKK2, DKK3, DLGAP2, DLX3, DMBT1, DMGDH, DMPK, DMXL1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAH9, DNAJA4, DNAJC6, DNASE1, DND1, DNM1, DNM2, DNMT1, DNMT3A, DOCK4, DOCK6, DOCK8, DOCK9, DOK7, DPYD, DPYSL2, DRD2, DRD4, DROSHA, DSC2, DSC3, DSCAM, DSG1, DSG2, DSG4, DSP, DST, DUOX2, DYM, DYNC2H1, DYX1C1, EARS2, ECM1, EDAR, EDARADD, EDN3, EDRF1, EEF2K, EFHC1, EFTUD2, EGF, EGFR, EGLN1, EHMT1, EHMT2, EIF2AK3, EIF2B5, EIF4G1, ELAVL2, ELN, ELOVL4, ELP2, EME1, EMX2, EN2, ENG, ENO3, ENPP1, EP300, EPHA2, EPHA3, EPHA5, EPHA7, EPHX1, EPM2A, ERBB4, ERCC1, ERCC4, ESR1, ESR2, ESRRB, ETFB, EVC, EVC2, EVI5, EXO1, EXOC4, EXOSC3, EXT1, EYA1, EYA4, EYS, F10, F2RL1, F5, FAAH, FABP2, FABP6, FAH, FAM126A, FAM134B, FAM161A, FAM20A, FAM83H, FAM8A1, FANCA, FANCD2, FANCE, FANCG, FANCI, FASN, FBN2, FBN3, FBXO18, FBXO7, FBXW4, FCAR, FCER2, FCGR2A, FCGR3A, FCGRT, FCN3, FCRL3, FDFT1, FECH, FFAR1, FGA, FGD3, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FGFRL1, FIG4, FLCN, FLNC, FLT1, FLT4, FLVCR2, FMN1, FMN2, FMO2, FMO3, FMO6P, FN1, FN3K, FOLH1, FOXA1, FOXA3, FOXC1, FOXD3, FOXN1, FPGS, FPR1, FRA10AC1, FRAS1, FREM1, FREM2, FRG1, FRK, FRMD6, FRY, FSHB, FSHR, FTCD, FUS, FUT3, G6PC2, GAA, GABBR1, GABRD, GABRG1, GABRG2, GABRR2, GAD1, GAK, GALC, GALNS, GALNT2, GALNT9, GALP, GAS2L2, GATA2, GBE1, GCDH, GCGR, GCKR, GCM2, GCNT2, GDAP1, GDF15, GDF3, GDF5, GEMIN4, GFAP, GFPT2, GGCX, GGT5, GHRL, GHSR, GIF, GIP, GIT1, GJA3, GJB2, GJB3, GJB4, GJC2, GJD2, GLB1, GLCCI1, GLDC, GLI1, GLI2, GLI3, GLIS2, GLIS3, GLP1R, GLRX5, GLTSCR1, GLUD1, GNAI2, GNAS, GNPAT, GOLGA3, GON4L, GOT1, GP1BA, GP6, GPANK1, GPATCH8, GPC3, GPC6, GPI, GPIHBP1, GPR1, GPR139, GPR179, GPR55, GPR56, GPR68, GPR98, GPSM2, GPX1, GPX4, GRIK2, GRIK4, GRIN2A, GRIN2B, GRIN3A, GRK5, GRM1, GRM6, GRM7, GSE1, GSN, GSTO1, GSTO2, GSTT2, GSTT2B, GSTZ1, GTF2E1, GTF2IRD1, GYPB, GYPC, GYS1, GYS2, H6PD, HABP2, HAL, HAS1, HAVCR1, HBEGF, HBS1L, HCLS1, HCN4, HDAC4, HDAC9, HELQ, HEPACAM, HERC2, HES6, HES7, HEXA, HEXB, HGD, HIBCH, HK1, HK2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DQA1, HLA-DRB1, HLA-DRB5, HLA-E, HLA-G, HLX, HMCN1, HMGCR, HMHA1, HNF1A, HNF1B, HNMT, HOGA1, HOXA13, HOXB13, HOXD13, HPS1, HPS3, HPS4, HPS6, HR, HRG, HS1BP3, HSD17B1, HSD17B2, HSD17B4, HSD3B1, HSPA8, HSPA9, HTN3, HTR1B, HTR2A, HTR3C, HTR5A, HTRA1, HUS1B, HYDIN, HYLS1, ICAM5, IDO1, IDUA, IFI44L, IFIH1, IFITM3, IFNAR2, IFNGR1, IFT80, IGF1R, IGF2R, IGFALS, IGFBP1, IGHA1, IGHMBP2, IHH, IKBIP, IKBKAP, IL10RB, IL17RA, IL17RB, IL17REL, IL18R1, IL19, IL1A, IL2, IL21, IL23R, IL3, IL31RA, IL7, IL7R, ILDR1, ILK, IMMP2L, IMPA2, IMPDH1, INF2, INSL3, INSL6, INSR, IQCB1, IQGAP1, IQGAP2, IQSEC2, IRAK3, IRF2, IRF4, IRF5, IRF6, IRF7, IRF8, IRS2, IRX4, ITGA11, ITGA2B, ITGA3, ITGA4, ITGA7, ITGA9, ITGAE, ITGAM, ITGB4, ITIH1, ITIH3, ITM2B, ITPA, ITPKC, ITPR1, ITPR3, IYD, JAG1, JAK2, JMJD1C, JPH2, JPH3, JUP, KALRN, KANK1, KANSL1, KARS, KAT6B, KATNAL2, KCNC3, KCNH2, KCNIP4, KCNJ1, KCNJ11, KCNJ15, KCNJ6, KCNJ9, KCNK18, KCNK6, KCNMB1, KCNMB3, KCNN3, KCNQ1, KCNQ2, KCNQ4, KCTD7, KDM4C, KDM5A, KDM6B, KDR, KEL, KIAA0196, KIAA1377, KIAA1432, KIAA1462, KIF17, KIF18A, KIF1A, KIF1B, KIR2DL1, KIR2DL4, KIRREL3, KISS1, KL, KLB, KLF11, KLHL1, KLHL3, KLHL7, KLK15, KLK7, KLRK1, KMT2C, KRIT1, KRT1, KRT2, KRT3, KRT37, KRT38, KRT5, KRT6B, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, KRTAP1-1, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB3, LAMC1, LAMC3, LARGE, LARS2, LBP, LCA5, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LEPREL1, LFNG, LGALS3, LHCGR, LHX3, LHX4, LIFR, LIG1, LINS, LIPC, LIPE, LIPI, LMAN1, LMF1, LMNB2, LMTK3, LMX1B, LNX2, LOR, LOXHD1, LOXL1, LOXL2, LPA, LPIN1, LPP, LRCH1, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC4, LRRC6, LRRC8A, LRRK2, LRSAM1, LTA, LTBP2, LTF, LTK, LTN1, LUM, MAD1L1, MAK, MAN2B1, MANBA, MAP2K2, MAP2K3, MAP3K1, MAP6, MAPK8IP1, MASP2, MAST4, MASTL, MAT1A, MATN3, MAVS, MBD1, MC1R, MC4R, MCEE, MCM3AP, MCOLN1, MCPH1, MED13, MED17, MED25, MEF2A, MEFV, MEGF11, MEN1, MERTK, MET, MFF, MFGE8, MFI2, MFRP, MGAT1, MIA3, MICB, MIIP, MKKS, MKL1, MLC1, MLH3, MLXIPL, MMAB, MME, MMEL1, MMP1, MMP14, MMP20, MMP7, MMP8, MMP9, MNX1, MOCOS, MOG, MOK, MPDZ, MPHOSPH8, MPP4, MPP7, MR1, MRC1, MRC1L1, MRPL3, MS4A12, MS4A3, MS4A6A, MS4A6E, MSH3, MSH4, MSH5, MSR1, MST1, MSX1, MT1A, MTCH2, MTHFD1, MTHFR, MTR, MTRR, MTTP, MTUS1, MUC1, MUC13, MUC2, MUC3A, MUC4, MUC5B, MUC7, MURC, MUT, MVK, MX1, MYBL2, MYH11, MYH13, MYH14, MYH15, MYH2, MYH3, MYH6, MYH8, MYLK, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYO7B, MYO9B, MYOC, MYOM1, MYPN, MYT1, NAGS, NAPRT1, NAT2, NAV2, NBAS, NBEA, NBEAL2, NBN, NBPF1, NCAM1, NCF4, NCKAP1, NCOA3, NCR3, NDN, NDUFAF2, NDUFAF4, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFV3, NEB, NEDD4L, NEDD9, NELL1, NEUROG3, NFATC4, NFIA, NFKB1, NFKBIA, NFU1, NGF, NID1, NINJ1, NIPA1, NIPSNAP1, NIPSNAP3A, NKX2-3, NKX2-6, NKX3-1, NLGN2, NLRP1, NLRP14, NLRP2, NLRX1, NME8, NMU, NODAL, NOP56, NOS1, NOS1AP, NOS2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPAP1, NPAS2, NPAT, NPC1, NPC1L1, NPHP1, NPHP3, NPHP4, NPPA, NPSR1, NPY, NPY2R, NQO1, NQO2, NR1I3, NR3C1, NR3C2, NRG1, NRIP1, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSUN2, NSUN7, NT5C1B, NT5C3A, NTF3, NTNG1, NTRK1, NUAK1, NUDT1, NUDT6, NUMBL, NUP155, NUP62, NXNL1, OAS2, OBSCN, OCA2, OLFM2, OPN1SW, OPN4, OPRK1, OPRM1, OPTC, OPTN, OR13G1, OR7D4, ORAI1, OSMR, OTOA, OTOF, OVGP1, P2RX1, P2RX5, P2RX7, P2RY12, PAK7, PALM2-AKAP2, PANK2, PARD3B, PARK2, PARP1, PARP2, PASK, PAWR, PAX2, PAX4, PAX7, PCCA, PCDH18, PCDH9, PCDHA10, PCDHA13, PCDHB4, PCK1, PCMT1, PCNT, PCOLCE, PCSK2, PDE4B, PDGFRA, PDHB, PDHX, PDLIM5, PDPK1, PDXK, PEAR1, PECR, PENK, PEPD, PER1, PER2, PER3, PEX10, PEX14, PEX16, PEX6, PFAS, PFN1, PGAM5, PGC, PGM1, PHF11, PHKG2, PHLPP2, PHOX2B, PIEZO2, PIGN, PIGO, PIGR, PIK3C2G, PIK3CA, PIK3CD, PIK3CG, PIK3R1, PIK3R4, PIP4K2A, PIP5K1C, PITPNM3, PITX1, PIWIL3, PKD1, PKD1L1, PKD2, PKHD1, PKM, PKP1, PKP2, PLA2G4C, PLAU, PLCB1, PLCE1, PLCG2, PLD2, PLEC, PLEKHG4, PLG, PLOD1, PLXND1, PNMT, PNP, PNPLA1, PNPLA2, PNPLA3, POGZ, POLG, POMT1, POMT2, PON2, PON3, POR, POU3F4, POU5F1, POU5F1B, POU6F2, PPAN-P2RY11, PPARG, PPIA, PPIG, PPP1R3A, PRCP, PRDM2, PRDM9, PRKAG3, PRKCB, PRKCG, PRKCH, PRKD3, PRKDC, PRKRA, PRL, PRM1, PRMT7, PROC, PRODH, PROK1, PROKR1, PROKR2, PROP1, PROS1, PRPH2, PRRC2A, PRRT2, PRSS1, PRSS12, PSCA, PSMB8, PSMB9, PSMC3IP, PSPH, PTCH1, PTCHD3, PTF1A, PTGDR, PTGER2, PTGS2, PTPN1, PTPN14, PTPN21, PTPRB, PTPRD, PTPRF, PTPRJ, PTPRK, PTPRO, PTPRQ, PTPRT, PVR, PVRL1, PVRL3, PXDN, PYCRL, PYY, PZP, RAB11FIP5, RAB23, RAB3GAP1, RABGGTA, RABL6, RAD21, RAD21L1, RAD54B, RAD9A, RAET1L, RAI1, RALGAPA1, RANBP2, RAPSN, RARS2, RASSF1, RAX, RB1CC1, RBM15, RBP3, RELN, REN, REV3L, RFX2, RFXANK, RGS9BP, RHBDF2, RHCE, RHPN2, RIN2, RIPK4, RMI1, RNASET2, RNF139, RNF168, RNF213, ROBO1, ROBO3, ROR2, ROS1, RP1, RP11-145E5.5, RP1L1, RPE65, RPGRIP1, RPGRIP1L, RPH3AL, RPL11, RPTOR, RUNX3, RXFP2, RXRG, RYK, RYR1, RYR2, RYR3, S100B, SAA1, SAA2, SACS, SAG, SALL4, SART1, SART3, SBNO1, SCAP, SCARB1, SCARF2, SCN10A, SCN1B, SCN3A, SCN5A, SCN8A, SCN9A, SCNN1G, SCO1, SCRIB, SDC3, SDCCAG8, SDHA, SDHD, SEC23A, SEC23B, SEL1L, SELE, SELP, SELPLG, SEMA3E, SEMA4C, SEMA4G, SEMA6D, SEPN1, SEPT12, SEPT9, SERPINA1, SERPINA10, SERPINA3, SERPINB5, SERPINB6, SERPINC1, SERPINF2, SERPINH1, SERPINI2, SERTAD1, SETBP1, SETD8, SETDB2, SETX, SEZ6, SEZ6L2, SGCG, SGK1, SGK223, SGSH, SH2B1, SH3PXD2B, SHANK3, SHMT1, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGMAR1, SIL1, SIM1, SIRT1, SIX3, SIX5, SIX6, SKIV2L, SLC11A2, SLC12A1, SLC12A3, SLC13A2, SLC15A1, SLC16A12, SLC17A1, SLC17A3, SLC18A1, SLC20A2, SLC22A1, SLC22A4, SLC22A5, SLC22A9, SLC24A1, SLC24A2, SLC25A13, SLC25A15, SLC25A19, SLC25A22, SLC25A38, SLC26A1, SLC26A3, SLC26A6, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A3, SLC29A4, SLC2A2, SLC2A9, SLC30A5, SLC30A8, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC41A1, SLC45A2, SLC47A2, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC5A7, SLC6A11, SLC6A12, SLC6A18, SLC6A19, SLC6A2, SLC6A3, SLC6A5, SLC7A10, SLC7A7, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLCO2B1, SLIT3, SLX4, SMAD3, SMAD7, SMARCA2, SMARCA4, SMARCAD1, SMC1B, SMG6, SMOC2, SMPD1, SMYD3, SNRNP200, SNTG2, SNX19, SOD3, SOHLH1, SORCS1, SORL1, SP100, SP110, SPAG16, SPAG17, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPRN, SPRR3, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN5, SRD5A3, SREBF2, SRGAP2, SRP72, ST14, ST5, STAT5B, STEAP3, STEAP4, STIL, STIM1, STK10, STK39, STRA6, STRC, STX16, STXBP5, SUFU, SUGCT, SULT1A1, SULT1A3, SUMO4, SUN2, SURF1, SYNE1, SYNE2, SYNM, SYT2, T, TAB2, TAC3, TAF2, TAL1, TAP2, TAPBP, TAS1R1, TAS1R2, TAS2R16, TAS2R19, TAS2R3, TAS2R43, TAS2R46, TAS2R50, TBC1D1, TBC1D4, TBX1, TBX15, TBX2, TBX20, TBX4, TBXAS1, TCF21, TCF7, TCN2, TCTE1, TCTE3, TDRD7, TECTA, TEK, TENM4, TEP1, TERT, TET1, TEX14, TF, TFB1M, TFPI, TFRC, TG, TGFBR2, TGFBRAP1, TGIF1, TGM1, TGM6, THADA, THBD, THBS1, THBS2, THSD7A, TICAM1, TIMP2, TIMP3, TJP2, TLK1, TLR1, TLR10, TLR5, TLR9, TM4SF19, TMC6, TMEM135, TMEM173, TMEM2, TMEM216, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TNC, TNFAIP2, TNFRSF10A, TNFRSF10B, TNFRSF11A, TNFRSF4, TNFSF10, TNFSF11, TNFSF15, TNKS, TNNT2, TNNT3, TNR, TNXB, TOMM40, TOP1MT, TOPBP1, TOPORS, TP53, TP53BP1, TP53RK, TPCN2, TPH2, TPMT, TPO, TPP1, TPTE, TRAK2, TRDN, TREX1, TRIM17, TRIM21, TRIM22, TRIO, TRIOBP, TRIP11, TRIP12, TRPA1, TRPM1, TRPM3, TRPM6, TRPM7, TRPV1, TRPV3, TRPV4, TSEN34, TSEN54, TSFM, TSHR, TSHZ1, TSPO, TSPYL1, TSSC4, TTBK2, TTC37, TTI2, TTN, TUBA8, TUBB1, TULP1, TYK2, UBD, UBE3C, UBR1, UBR3, UCP2, UCP3, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT2A3, UGT2B15, UMOD, UNC13D, UPB1, UPK3A, UQCRB, USH1C, USH2A, USP15, UTF1, UTRN, UTS2, UVSSA, VANGL1, VCAN, VCL, VCX3A, VDR, VIMP, VPS13A, VPS13B, VSX1, VSX2, VTN, VWF, WAS, WASF3, WDFY4, WDR35, WDR4, WDR45B, WDR62, WDR65, WDR72, WDR81, WFS1, WISP3, WNK1, WNT7A, WRAP53, WRN, WT1, WWC1, XDH, XPC, XRCC1, XRCC4, XYLT2, YBX2, ZAN, ZBTB18, ZBTB40, ZBTB41, ZC3H3, ZC3HAV1, ZDHHC8, ZEB1, ZFAT, ZFHX3, ZFHX4, ZFP57, ZFP90, ZFPM2, ZFYVE27, ZMPSTE24, ZNF202, ZNF335, ZNF365, ZNF385B, ZNF526, ZNF750, ZNF804A,
Genes at Omim
A4GALT, AARS2, ABCA1, ABCA12, ABCA3, ABCA4, ABCA7, ABCB1, ABCB11, ABCC11, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ACADS, ACADSB, ACAN, ACAT1, ACOX1, ACSF3, ACTN2, ACTN3, ADA, ADAM17, ADAM9, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADCK3, ADCY10, ADCY3, ADCY6, ADH1C, ADNP, ADRB2, AGL, AGRN, AGXT2, AHR, AHSG, AICDA, AIP, AIPL1, AKAP9, AKR1C2, ALAD, ALDH5A1, ALDH7A1, ALG1, ALG10B, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX5, ALOXE3, ALS2, ALX4, AMACR, AMPD1, AMPD3, AMT, ANK1, ANK2, ANK3, ANKH, ANKRD11, ANKRD26, ANO6, ANXA11, AP3B1, AP4B1, AP4E1, AP5Z1, APOB, APOE, AQP2, AQP3, AQP7, ARFGEF2, ARHGEF10, ARID1A, ARL13B, ARSA, ARSB, ASAH1, ASCL1, ASL, ASPA, ASPM, ASXL1, ATF6, ATIC, ATL1, ATM, ATN1, ATP2A1, ATP2B2, ATP6V0A4, ATP7B, ATP8A2, ATR, ATXN1, ATXN3, AXIN1, AXIN2, B4GALT7, BAAT, BAG3, BBS1, BBS12, BBS2, BBS4, BCKDHB, BCL10, BCL2, BCR, BEST1, BFSP1, BICC1, BLK, BLNK, BLOC1S3, BMP1, BMP2, BMP4, BMPER, BMPR1A, BRAF, BRCA2, BRIP1, BSG, BSND, BTNL2, C1QA, C1R, C2, C3, C4B, C5, C7, C8B, C9orf72, CACNA1A, CACNA1C, CACNA1E, CACNA1G, CACNA1H, CACNA1S, CACNA2D4, CACNB2, CACNB4, CACNG2, CAMTA1, CAPN3, CARD14, CASP10, CASP8, CASQ2, CASR, CAT, CATSPER1, CAV3, CBL, CBX2, CC2D1A, CC2D2A, CCDC40, CCDC8, CCDC88C, CCL3L1, CCND1, CCR2, CD151, CD19, CD207, CD27, CD36, CD3E, CD44, CD81, CD96, CDAN1, CDC6, CDH15, CDH23, CDHR1, CDK5RAP2, CDKN1B, CDON, CDSN, CDT1, CEL, CENPJ, CEP152, CEP63, CERKL, CFB, CFH, CFHR3, CFTR, CHAT, CHD3, CHD7, CHD8, CHI3L1, CHRNA2, CHRNA4, CHRND, CHRNE, CHRNG, CHST3, CHSY1, CHUK, CIB2, CIC, CIDEC, CIITA, CISH, CLCN1, CLCNKB, CLEC4M, CLN5, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COCH, COG4, COG5, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A2, COL25A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A1, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A2, COL9A3, COLEC11, COMT, COQ2, COQ4, CORIN, CORO1A, COX10, COX6B1, CPS1, CPT1A, CR1, CR2, CRBN, CRELD1, CRTAP, CRYAA, CRYBA1, CRYBB2, CRYGD, CRYM, CSF2RB, CSF3R, CSTA, CTC1, CTDP1, CTNNA3, CTNS, CTSB, CTSK, CUBN, CUL7, CX3CR1, CYB5A, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP24A1, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP4V2, D2HGDH, DAG1, DAZL, DCAF17, DCDC2, DCLRE1C, DDOST, DDR2, DDX11, DDX58, DEAF1, DGCR2, DGUOK, DHCR7, DHODH, DIAPH3, DIP2B, DISC1, DLX3, DMGDH, DMPK, DNAAF1, DNAH11, DNAH5, DNAH9, DNAJC6, DNASE1, DNM1, DNM2, DNMT1, DNMT3A, DOCK6, DOCK8, DOK7, DPYD, DRD4, DSC2, DSC3, DSG1, DSG2, DSG4, DSP, DST, DUOX2, DYM, DYNC2H1, EARS2, ECM1, EDAR, EDARADD, EDN3, EFHC1, EFTUD2, EGF, EGFR, EGLN1, EHMT1, EIF2AK3, EIF2B5, EIF4G1, ELN, ELOVL4, ELP2, EMX2, ENG, ENO3, ENPP1, EP300, EPHA2, EPHX1, EPM2A, ERBB4, ERCC1, ERCC4, ESR1, ESR2, ESRRB, ETFB, EVC, EVC2, EXOSC3, EXT1, EYA1, EYA4, EYS, F10, F5, FAAH, FAH, FAM126A, FAM134B, FAM161A, FAM20A, FAM83H, FANCA, FANCD2, FANCE, FANCI, FBN2, FBXO7, FCGR2A, FCGR3A, FCN3, FDFT1, FECH, FGA, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FIG4, FLCN, FLNC, FLT4, FLVCR2, FMN2, FMO3, FN1, FOXC1, FOXD3, FOXN1, FRAS1, FREM1, FREM2, FSHB, FSHR, FTCD, FUS, FUT3, GAA, GABRD, GABRG2, GAD1, GALC, GALNS, GATA2, GBE1, GCDH, GCGR, GCKR, GCM2, GCNT2, GDAP1, GDF3, GDF5, GEMIN4, GFAP, GGCX, GHRL, GHSR, GIF, GJA3, GJB2, GJB3, GJB4, GJC2, GLB1, GLCCI1, GLDC, GLI1, GLI2, GLI3, GLIS2, GLIS3, GLRX5, GLUD1, GNAI2, GNAS, GNPAT, GOT1, GP1BA, GP6, GPC3, GPC6, GPI, GPIHBP1, GPR179, GPR68, GPSM2, GPX1, GPX4, GRIK2, GRIN2A, GRIN2B, GRM1, GRM6, GSN, GSTZ1, GYPB, GYPC, GYS1, GYS2, H6PD, HABP2, HAL, HBEGF, HCN4, HEPACAM, HERC2, HES7, HEXA, HEXB, HGD, HIBCH, HK1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, HLA-G, HMCN1, HMGCR, HNF1A, HNF1B, HNMT, HOGA1, HOXA13, HOXB13, HOXD13, HPS1, HPS3, HPS4, HPS6, HR, HRG, HSD17B4, HSPA9, HTR2A, HTRA1, HYDIN, HYLS1, IDUA, IFIH1, IFITM3, IFNAR2, IFNGR1, IFT80, IGF1R, IGF2R, IGFALS, IGHMBP2, IHH, IKBKAP, IL17RA, IL21, IL23R, IL31RA, IL7, IL7R, ILDR1, IMPDH1, INF2, INSL3, INSR, IQCB1, IQSEC2, IRAK3, IRF4, IRF5, IRF6, IRF7, IRF8, IRS2, ITGA2B, ITGA3, ITGA7, ITGB4, ITM2B, ITPA, ITPKC, ITPR1, ITPR3, IYD, JAG1, JAK2, JPH2, JPH3, JUP, KALRN, KANK1, KANSL1, KARS, KAT6B, KCNC3, KCNH2, KCNJ1, KCNJ11, KCNJ6, KCNK18, KCNMB1, KCNQ1, KCNQ2, KCNQ4, KCTD7, KDR, KEL, KIF1A, KIF1B, KISS1, KL, KLF11, KLHL3, KLHL7, KMT2C, KRT1, KRT2, KRT3, KRT5, KRT6B, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB3, LAMC3, LARGE, LARS2, LCA5, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LFNG, LHCGR, LHX3, LHX4, LIFR, LIPC, LIPE, LIPI, LMAN1, LMF1, LMNB2, LMX1B, LOR, LOXHD1, LOXL1, LPA, LPIN1, LPP, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC6, LRRC8A, LRRK2, LRSAM1, LTA, LTBP2, MAD1L1, MAK, MAN2B1, MANBA, MAP2K2, MAP3K1, MAPK8IP1, MASP2, MAT1A, MATN3, MC1R, MC4R, MCEE, MCM3AP, MCOLN1, MCPH1, MED17, MED25, MEF2A, MEFV, MEN1, MERTK, MET, MFF, MFRP, MKKS, MKL1, MLC1, MLH3, MMAB, MME, MMP1, MMP14, MMP20, MMP9, MNX1, MOCOS, MOG, MPDZ, MR1, MRPL3, MSH3, MSH5, MSR1, MSX1, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUC1, MUC5B, MUC7, MUT, MVK, MYH11, MYH14, MYH2, MYH3, MYH6, MYH8, MYLK, MYO15A, MYO18B, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYO9B, MYOC, MYPN, NAGS, NAT2, NBAS, NBEAL2, NBN, NCF4, NCR3, NDN, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NEB, NEDD4L, NEUROG3, NFIA, NFKB1, NFKBIA, NFU1, NGF, NIPA1, NKX2-6, NLRP1, NME8, NODAL, NOP56, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC1, NPC1L1, NPHP1, NPHP3, NPHP4, NPPA, NPSR1, NQO1, NQO2, NR3C1, NR3C2, NRG1, NRIP1, NRXN1, NSD1, NSUN2, NT5C3A, NTRK1, NUP155, NUP62, OCA2, OPN1SW, OPTN, ORAI1, OSMR, OTOA, OTOF, P2RY12, PANK2, PAX2, PAX4, PAX7, PCCA, PCK1, PCNT, PDGFRA, PDHB, PDHX, PEPD, PER2, PER3, PEX10, PEX14, PEX16, PEX6, PFN1, PGM1, PHKG2, PHOX2B, PIEZO2, PIGN, PIGO, PIK3CA, PIK3CD, PIK3R1, PIP5K1C, PITPNM3, PITX1, PKD1, PKD1L1, PKD2, PKP1, PKP2, PLAU, PLCB1, PLCE1, PLCG2, PLG, PLOD1, PNP, PNPLA1, PNPLA2, POGZ, POLG, POMT1, POMT2, PON2, POR, POU3F4, POU6F2, PPARG, PPP1R3A, PRKCG, PRKCH, PRKDC, PRKRA, PRMT7, PROC, PRODH, PROKR2, PROP1, PROS1, PRPH2, PRRT2, PRSS1, PRSS12, PSMB8, PSMB9, PSMC3IP, PSPH, PTCH1, PTF1A, PTGDR, PTGER2, PTPN1, PTPN14, PTPRF, PTPRJ, PTPRO, PTPRQ, PXDN, RAB23, RAB3GAP1, RAD21, RAD54B, RAI1, RANBP2, RAPSN, RARS2, RAX, RB1CC1, RBM15, RBP3, RELN, REN, RFXANK, RGS9BP, RHBDF2, RHCE, RIN2, RIPK4, RNASET2, RNF139, RNF168, RNF213, ROBO3, ROR2, RP1, RP1L1, RPE65, RPGRIP1, RPGRIP1L, RPL11, RYR1, RYR2, SACS, SAG, SALL4, SCARB1, SCARF2, SCN10A, SCN1B, SCN3A, SCN5A, SCN8A, SCN9A, SCNN1G, SCO1, SDC3, SDCCAG8, SDHA, SDHD, SEC23A, SEC23B, SEMA3E, SEPT12, SEPT9, SERPINA1, SERPINA3, SERPINB6, SERPINC1, SERPINH1, SETBP1, SETX, SGCG, SGSH, SH3PXD2B, SHANK3, SHROOM4, SI, SIAE, SIGMAR1, SIL1, SIM1, SIX3, SIX5, SIX6, SKIV2L, SLC11A2, SLC12A1, SLC12A3, SLC16A12, SLC17A3, SLC20A2, SLC22A4, SLC22A5, SLC24A1, SLC25A13, SLC25A15, SLC25A19, SLC25A22, SLC25A38, SLC26A1, SLC26A3, SLC29A3, SLC2A2, SLC2A9, SLC30A8, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC5A7, SLC6A19, SLC6A2, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLX4, SMAD3, SMAD7, SMARCA2, SMARCA4, SMARCAD1, SMOC2, SMPD1, SNRNP200, SOD3, SOHLH1, SP110, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPTA1, SPTAN1, SPTB, SPTBN2, SRD5A3, SRP72, ST14, STAT5B, STEAP3, STIL, STIM1, STRA6, STRC, STX16, SUFU, SUMO4, SURF1, SYNE1, SYNE2, SYT2, T, TAB2, TAC3, TAF2, TAL1, TAP2, TAPBP, TAS2R16, TBC1D4, TBX1, TBX15, TBX2, TBX20, TBX4, TBXAS1, TCN2, TDRD7, TECTA, TEK, TENM4, TERT, TEX14, TF, TFRC, TG, TGFBR2, TGIF1, TGM1, TGM6, THBD, THBS2, TICAM1, TIMP3, TJP2, TLR1, TLR5, TMC6, TMEM173, TMEM216, TMPRSS15, TMPRSS3, TMPRSS6, TNC, TNFRSF10B, TNFRSF11A, TNFRSF4, TNFSF11, TNNT2, TNNT3, TNXB, TOPORS, TP53, TP53RK, TPCN2, TPH2, TPMT, TPO, TPP1, TRDN, TREX1, TRIO, TRIOBP, TRIP11, TRIP12, TRPA1, TRPM1, TRPM6, TRPM7, TRPV3, TRPV4, TSEN34, TSEN54, TSFM, TSHR, TSHZ1, TSPYL1, TTBK2, TTC37, TTI2, TTN, TUBA8, TUBB1, TULP1, TYK2, UBR1, UCP2, UCP3, UMOD, UNC13D, UPB1, UQCRB, USH1C, USH2A, UVSSA, VANGL1, VCAN, VCL, VDR, VPS13A, VPS13B, VSX1, VWF, WAS, WDR35, WDR4, WDR45B, WDR62, WDR72, WDR81, WFS1, WISP3, WNK1, WNT7A, WRAP53, WT1, WWC1, XDH, XPC, XRCC1, XRCC4, XYLT2, ZBTB18, ZEB1, ZFHX3, ZFHX4, ZFP57, ZFPM2, ZFYVE27, ZMPSTE24, ZNF335, ZNF365, ZNF750,A4GALT |
NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3) |
AARS2 |
Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3) |
ABCA1 |
HDL deficiency, type 2, 604091 (3) Tangier disease, 205400 (3) {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3) |
ABCA12 |
Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3) |
ABCA3 |
Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) |
ABCA4 |
Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3) |
ABCA7 |
{Alzheimer disease 9, susceptibility to}, 608907 (3) |
ABCB1 |
{Inflammatory bowel disease 13}, 612244 (3) {Colchicine resistance}, 120080 (3) |
ABCB11 |
Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) Cholestasis, progressive familial intrahepatic 2, 601847 (3) |
ABCC11 |
[Axillary odor, variation in], 117800 (3) [Colostrum secretion, variation in], 117800 (3) [Earwax, wet/dry], 117800 (3) |
ABCC8 |
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Hypoglycemia of infancy, leucine-sensitive, 240800 (3) Diabetes mellitus, noninsulin-dependent, 125853 (3) Diabetes mellitus, permanent neonatal, 606176 (3) Diabetes mellitus, transient neonatal 2, 610374 (3) |
ABCD4 |
Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3) |
ABCG2 |
[Junior blood group system], 614490 (3) [Uric acid concentration, serum, QTL1], 138900 (3) |
ABCG5 |
Sitosterolemia, 210250 (3) |
ABCG8 |
{Gallbladder disease 4}, 611465 (3) Sitosterolemia, 210250 (3) |
ABHD12 |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) |
ACADS |
Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) |
ACADSB |
2-methylbutyrylglycinuria, 610006 (3) |
ACAN |
?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3) |
ACAT1 |
Alpha-methylacetoacetic aciduria, 203750 (3) |
ACOX1 |
Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) |
ACSF3 |
Combined malonic and methylmalonic aciduria, 614265 (3) |
ACTN2 |
Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3) Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3) |
ACTN3 |
[Alpha-actinin-3 deficiency], 617749 (3) [Sprinting performance], 617749 (3) |
ADA |
Adenosine deaminase deficiency, partial, 102700 (3) Severe combined immunodeficiency due to ADA deficiency, 102700 (3) |
ADAM17 |
?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3) |
ADAM9 |
Cone-rod dystrophy 9, 612775 (3) |
ADAMTS17 |
Weill-Marchesani 4 syndrome, recessive, 613195 (3) |
ADAMTS2 |
Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3) |
ADAMTSL2 |
Geleophysic dysplasia 1, 231050 (3) |
ADAMTSL4 |
Ectopia lentis et pupillae, 225200 (3) Ectopia lentis, isolated, autosomal recessive, 225100 (3) |
ADAR |
Aicardi-Goutieres syndrome 6, 615010 (3) Dyschromatosis symmetrica hereditaria, 127400 (3) |
ADCK3 |
Coenzyme Q10 deficiency, primary, 4, 612016 (3) |
ADCY10 |
{Hypercalciuria, absorptive, susceptibility to}, 143870 (3) |
ADCY3 |
{Obesity, susceptibility to, BMIQ19}, 617885 (3) |
ADCY6 |
?Lethal congenital contracture syndrome 8, 616287 (3) |
ADH1C |
{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3) |
ADNP |
Helsmoortel-van der Aa syndrome, 615873 (3) |
ADRB2 |
Beta-2-adrenoreceptor agonist, reduced response to (3) {Obesity, susceptibility to}, 601665 (3) {Asthma, nocturnal, susceptibility to}, 600807 (3) |
AGL |
Glycogen storage disease IIIa, 232400 (3) Glycogen storage disease IIIb, 232400 (3) |
AGRN |
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) |
AGXT2 |
[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3) |
AHR |
?Retinitis pigmentosa 85, 618345 (3) |
AHSG |
?Alopecia-mental retardation syndrome 1, 203650 (3) |
AICDA |
Immunodeficiency with hyper-IgM, type 2, 605258 (3) |
AIP |
Pituitary adenoma 1, multiple types, 102200 (3) Pituitary adenoma predisposition, 102200 (3) |
AIPL1 |
Cone-rod dystrophy, 604393 (3) Leber congenital amaurosis 4, 604393 (3) Retinitis pigmentosa, juvenile, 604393 (3) |
AKAP9 |
?Long QT syndrome-11, 611820 (3) |
AKR1C2 |
46XY sex reversal 8, 614279 (3) |
ALAD |
{Lead poisoning, susceptibility to}, 612740 (3) Porphyria, acute hepatic, 612740 (3) |
ALDH5A1 |
Succinic semialdehyde dehydrogenase deficiency, 271980 (3) |
ALDH7A1 |
Epilepsy, pyridoxine-dependent, 266100 (3) |
ALG1 |
Congenital disorder of glycosylation, type Ik, 608540 (3) |
ALG10B |
{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3) |
ALG12 |
Congenital disorder of glycosylation, type Ig, 607143 (3) |
ALG2 |
Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) ?Congenital disorder of glycosylation, type Ii, 607906 (3) |
ALG8 |
Congenital disorder of glycosylation, type Ih, 608104 (3) Polycystic liver disease 3 with or without kidney cysts, 617874 (3) |
ALK |
{Neuroblastoma, susceptibility to, 3}, 613014 (3) |
ALMS1 |
Alstrom syndrome, 203800 (3) |
ALOX5 |
{Asthma, diminished response to antileukotriene treatment in}, 600807 (3) {Atherosclerosis, susceptibility to} (3) |
ALOXE3 |
Ichthyosis, congenital, autosomal recessive 3, 606545 (3) |
ALS2 |
Amyotrophic lateral sclerosis 2, juvenile, 205100 (3) Primary lateral sclerosis, juvenile, 606353 (3) Spastic paralysis, infantile onset ascending, 607225 (3) |
ALX4 |
Frontonasal dysplasia 2, 613451 (3) Parietal foramina 2, 609597 (3) {Craniosynostosis 5, susceptibility to}, 615529 (3) |
AMACR |
Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3) |
AMPD1 |
Myopathy due to myoadenylate deaminase deficiency, 615511 (3) |
AMPD3 |
[AMP deaminase deficiency, erythrocytic], 612874 (3) |
AMT |
Glycine encephalopathy, 605899 (3) |
ANK1 |
Spherocytosis, type 1, 182900 (3) |
ANK2 |
Cardiac arrhythmia, ankyrin-B-related, 600919 (3) Long QT syndrome 4, 600919 (3) |
ANK3 |
?Mental retardation, autosomal recessive, 37, 615493 (3) |
ANKH |
Chondrocalcinosis 2, 118600 (3) Craniometaphyseal dysplasia, 123000 (3) |
ANKRD11 |
KBG syndrome, 148050 (3) |
ANKRD26 |
Thrombocytopenia 2, 188000 (3) |
ANO6 |
Scott syndrome, 262890 (3) |
ANXA11 |
Amytrophic lateral sclerosis 23, 617839 (3) |
AP3B1 |
Hermansky-Pudlak syndrome 2, 608233 (3) |
AP4B1 |
Spastic paraplegia 47, autosomal recessive, 614066 (3) |
AP4E1 |
Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3) |
AP5Z1 |
Spastic paraplegia 48, autosomal recessive, 613647 (3) |
APOB |
Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) Hypobetalipoproteinemia, 615558 (3) |
APOE |
Alzheimer disease-2, 104310 (3) Hyperlipoproteinemia, type III, 617347 (3) Lipoprotein glomerulopathy, 611771 (3) Sea-blue histiocyte disease, 269600 (3) {?Macular degeneration, age-related}, 603075 (3) {Coronary artery disease, severe, susceptibility to}, 617347 (3) |
AQP2 |
Diabetes insipidus, nephrogenic, 125800 (3) |
AQP3 |
[Blood group GIL], 607457 (3) |
AQP7 |
[Glycerol quantitative trait locus], 614411 (3) |
ARFGEF2 |
Periventricular heterotopia with microcephaly, 608097 (3) |
ARHGEF10 |
?Slowed nerve conduction velocity, AD, 608236 (3) |
ARID1A |
Coffin-Siris syndrome 2, 614607 (3) |
ARL13B |
Joubert syndrome 8, 612291 (3) |
ARSA |
Metachromatic leukodystrophy, 250100 (3) |
ARSB |
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) |
ASAH1 |
Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3) |
ASCL1 |
Haddad syndrome, 209880 (3) Central hypoventilation syndrome, congenital, 209880 (3) |
ASL |
Argininosuccinic aciduria, 207900 (3) |
ASPA |
Canavan disease, 271900 (3) |
ASPM |
Microcephaly 5, primary, autosomal recessive, 608716 (3) |
ASXL1 |
Bohring-Opitz syndrome, 605039 (3) Myelodysplastic syndrome, somatic, 614286 (3) |
ATF6 |
Achromatopsia 7, 616517 (3) |
ATIC |
AICA-ribosiduria due to ATIC deficiency, 608688 (3) |
ATL1 |
Neuropathy, hereditary sensory, type ID, 613708 (3) Spastic paraplegia 3A, autosomal dominant, 182600 (3) |
ATM |
Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3) {Breast cancer, susceptibility to}, 114480 (3) |
ATN1 |
Dentatorubro-pallidoluysian atrophy, 125370 (3) |
ATP2A1 |
Brody myopathy, 601003 (3) |
ATP2B2 |
{Deafness, autosomal recessive 12, modifier of}, 601386 (3) |
ATP6V0A4 |
Renal tubular acidosis, distal, autosomal recessive, 602722 (3) |
ATP7B |
Wilson disease, 277900 (3) |
ATP8A2 |
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3) |
ATR |
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3) Seckel syndrome 1, 210600 (3) |
ATXN1 |
Spinocerebellar ataxia 1, 164400 (3) |
ATXN3 |
Machado-Joseph disease, 109150 (3) |
AXIN1 |
Hepatocellular carcinoma, somatic, 114550 (3) ?Caudal duplication anomaly, 607864 (3) |
AXIN2 |
Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3) |
B4GALT7 |
Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3) |
BAAT |
Hypercholanemia, familial, 607748 (3) |
BAG3 |
Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3) |
BBS1 |
Bardet-Biedl syndrome 1, 209900 (3) |
BBS12 |
Bardet-Biedl syndrome 12, 615989 (3) |
BBS2 |
Bardet-Biedl syndrome 2, 615981 (3) Retinitis pigmentosa 74, 616562 (3) |
BBS4 |
Bardet-Biedl syndrome 4, 615982 (3) |
BCKDHB |
Maple syrup urine disease, type Ib, 248600 (3) |
BCL10 |
{Lymphoma, follicular, somatic}, 605027 (3) {Male germ cell tumor, somatic}, 273300 (3) {Mesothelioma, somatic}, 156240 (3) Lymphoma, MALT, somatic, 137245 (3) {Sezary syndrome, somatic} (3) ?Immunodeficiency 37, 616098 (3) |
BCL2 |
Leukemia/lymphoma, B-cell, 2 (3) |
BCR |
Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3) |
BEST1 |
Bestrophinopathy, autosomal recessive, 611809 (3) Macular dystrophy, vitelliform, 2, 153700 (3) Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3) Retinitis pigmentosa, concentric, 613194 (3) Retinitis pigmentosa-50, 613194 (3) Vitreoretinochoroidopathy, 193220 (3) |
BFSP1 |
Cataract 33, multiple types, 611391 (3) |
BICC1 |
{Renal dysplasia, cystic, susceptibility to}, 601331 (3) |
BLK |
Maturity-onset diabetes of the young, type 11, 613375 (3) |
BLNK |
?Agammaglobulinemia 4, 613502 (3) |
BLOC1S3 |
Hermansky-Pudlak syndrome 8, 614077 (3) |
BMP1 |
Osteogenesis imperfecta, type XIII, 614856 (3) |
BMP2 |
{HFE hemochromatosis, modifier of}, 235200 (3) Brachydactyly, type A2, 112600 (3) Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3) |
BMP4 |
Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3) |
BMPER |
Diaphanospondylodysostosis, 608022 (3) |
BMPR1A |
Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3) |
BRAF |
Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3) |
BRCA2 |
Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3) |
BRIP1 |
Fanconi anemia, complementation group J, 609054 (3) {Breast cancer, early-onset, susceptibility to}, 114480 (3) |
BSG |
[Blood group, OK], 111380 (3) |
BSND |
Bartter syndrome, type 4a, 602522 (3) Sensorineural deafness with mild renal dysfunction, 602522 (3) |
BTNL2 |
{Sarcoidosis, susceptibility to, 2}, 612387 (3) |
C1QA |
C1q deficiency, 613652 (3) |
C1R |
Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3) |
C2 |
C2 deficiency, 217000 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) |
C3 |
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3) C3 deficiency, 613779 (3) {Macular degeneration, age-related, 9}, 611378 (3) |
C4B |
C4B deficiency, 614379 (3) |
C5 |
C5 deficiency, 609536 (3) [Eculizumab, poor response to], 615749 (3) |
C7 |
C7 deficiency, 610102 (3) |
C8B |
C8 deficiency, type II, 613789 (3) |
C9orf72 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3) |
CACNA1A |
Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3) |
CACNA1C |
Brugada syndrome 3, 611875 (3) Timothy syndrome, 601005 (3) |
CACNA1E |
Epileptic encephalopathy, early infantile, 69, 618285 (3) |
CACNA1G |
Spinocerebellar ataxia 42, 616795 (3) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3) |
CACNA1H |
Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3) |
CACNA1S |
{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3) |
CACNA2D4 |
Retinal cone dystrophy 4, 610478 (3) |
CACNB2 |
Brugada syndrome 4, 611876 (3) |
CACNB4 |
Episodic ataxia, type 5, 613855 (3) {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3) |
CACNG2 |
?Mental retardation, autosomal dominant 10, 614256 (3) |
CAMTA1 |
Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3) |
CAPN3 |
Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3) Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3) |
CARD14 |
Pityriasis rubra pilaris, 173200 (3) Psoriasis 2, 602723 (3) |
CASP10 |
Gastric cancer, somatic, 613659 (3) Autoimmune lymphoproliferative syndrome, type II, 603909 (3) Lymphoma, non-Hodgkin, somatic, 605027 (3) |
CASP8 |
Hepatocellular carcinoma, somatic, 114550 (3) {Lung cancer, protection against}, 211980 (3) ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3) {Breast cancer, protection against}, 114480 (3) |
CASQ2 |
Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) |
CASR |
Hyperparathyroidism, neonatal, 239200 (3) Hypocalcemia, autosomal dominant, 601198 (3) Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3) Hypocalciuric hypercalcemia, type I, 145980 (3) {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3) |
CAT |
Acatalasemia, 614097 (3) |
CATSPER1 |
Spermatogenic failure 7, 612997 (3) |
CAV3 |
Cardiomyopathy, familial hypertrophic, 192600 (3) Creatine phosphokinase, elevated serum, 123320 (3) Long QT syndrome 9, 611818 (3) Myopathy, distal, Tateyama type, 614321 (3) Rippling muscle disease 2, 606072 (3) |
CBL |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3) ?Juvenile myelomonocytic leukemia, 607785 (3) |
CBX2 |
?46XY sex reversal 5, 613080 (3) |
CC2D1A |
Mental retardation, autosomal recessive 3, 608443 (3) |
CC2D2A |
COACH syndrome, 216360 (3) Joubert syndrome 9, 612285 (3) Meckel syndrome 6, 612284 (3) |
CCDC40 |
Ciliary dyskinesia, primary, 15, 613808 (3) |
CCDC8 |
3-M syndrome 3, 614205 (3) |
CCDC88C |
Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3) |
CCL3L1 |
{HIV/AIDS, susceptibility to}, 609423 (3) |
CCND1 |
{Multiple myeloma, susceptibility to}, 254500 (3) {von Hippel-Lindau syndrome, modifier of}, 193300 (3) {Colorectal cancer, susceptibility to}, 114500 (3) |
CCR2 |
{HIV infection, susceptibility/resistance to} (3) |
CD151 |
Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) [Blood group, Raph], 179620 (3) |
CD19 |
Immunodeficiency, common variable, 3, 613493 (3) |
CD207 |
[?Birbeck granule deficiency], 613393 (3) |
CD27 |
Lymphoproliferative syndrome 2, 615122 (3) |
CD36 |
{Malaria, cerebral, reduced risk of}, 611162 (3) {Malaria, cerebral, susceptibility to}, 611162 (3) Platelet glycoprotein IV deficiency, 608404 (3) [Macrothrombocytopenia] (1) {Coronary heart disease, susceptibility to, 7}, 610938 (3) |
CD3E |
Immunodeficiency 18, 615615 (3) Immunodeficiency 18, SCID variant, 615615 (3) |
CD44 |
[Blood group, Indian system], 609027 (3) |
CD81 |
Immunodeficiency, common variable, 6, 613496 (3) |
CD96 |
C syndrome, 211750 (3) |
CDAN1 |
Dyserythropoietic anemia, congenital, type Ia, 224120 (3) |
CDC6 |
?Meier-Gorlin syndrome 5, 613805 (3) |
CDH15 |
Mental retardation, autosomal dominant 3, 612580 (3) |
CDH23 |
Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3) |
CDHR1 |
Cone-rod dystrophy 15, 613660 (3) Retinitis pigmentosa 65, 613660 (3) |
CDK5RAP2 |
Microcephaly 3, primary, autosomal recessive, 604804 (3) |
CDKN1B |
Multiple endocrine neoplasia, type IV, 610755 (3) |
CDON |
Holoprosencephaly 11, 614226 (3) |
CDSN |
Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3) |
CDT1 |
Meier-Gorlin syndrome 4, 613804 (3) |
CEL |
Maturity-onset diabetes of the young, type VIII, 609812 (3) |
CENPJ |
Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3) |
CEP152 |
Microcephaly 9, primary, autosomal recessive, 614852 (3) Seckel syndrome 5, 613823 (3) |
CEP63 |
?Seckel syndrome 6, 614728 (3) |
CERKL |
Retinitis pigmentosa 26, 608380 (3) |
CFB |
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) ?Complement factor B deficiency, 615561 (3) |
CFH |
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) Basal laminar drusen, 126700 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3) |
CFHR3 |
{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) {Macular degeneration, age-related, reduced risk of}, 603075 (3) |
CFTR |
{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) |
CHAT |
Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) |
CHD3 |
Snijders Blok-Campeau syndrome, 618205 (3) |
CHD7 |
CHARGE syndrome, 214800 (3) Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) |
CHD8 |
{Autism, susceptibility to, 18}, 615032 (3) |
CHI3L1 |
{Schizophrenia, susceptibility to}, 181500 (3) {Asthma-related traits, susceptibility to, 7}, 611960 (3) |
CHRNA2 |
Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) |
CHRNA4 |
{Nicotine addiction, susceptibility to}, 188890 (3) Epilepsy, nocturnal frontal lobe, 1, 600513 (3) |
CHRND |
Multiple pterygium syndrome, lethal type, 253290 (3) Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3) ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3) |
CHRNE |
Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3) Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3) |
CHRNG |
Escobar syndrome, 265000 (3) Multiple pterygium syndrome, lethal type, 253290 (3) |
CHST3 |
Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) |
CHSY1 |
Temtamy preaxial brachydactyly syndrome, 605282 (3) |
CHUK |
Cocoon syndrome, 613630 (3) |
CIB2 |
Deafness, autosomal recessive 48, 609439 (3) Usher syndrome, type IJ, 614869 (3) |
CIC |
Mental retardation, autosomal dominant 45, 617600 (3) |
CIDEC |
?Lipodystrophy, familial partial, type 5, 615238 (3) |
CIITA |
Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3) |
CISH |
{Malaria, susceptibility to}, 611162 (3) {Tuberculosis, susceptibility to}, 607948 (3) {Bacteremia, susceptibility to}, 614383 (3) |
CLCN1 |
Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3) |
CLCNKB |
Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3) |
CLEC4M |
SARS infection, protection against (2) |
CLN5 |
Ceroid lipofuscinosis, neuronal, 5, 256731 (3) |
CNGA1 |
Retinitis pigmentosa 49, 613756 (3) |
CNGB1 |
Retinitis pigmentosa 45, 613767 (3) |
CNGB3 |
Achromatopsia 3, 262300 (3) Macular degeneration, juvenile, 248200 (3) |
CNNM2 |
Hypomagnesemia 6, renal, 613882 (3) Hypomagnesemia, seizures, and mental retardation, 616418 (3) |
CNTNAP2 |
Cortical dysplasia-focal epilepsy syndrome, 610042 (3) Pitt-Hopkins like syndrome 1, 610042 (3) {Autism susceptibility 15}, 612100 (3) |
COCH |
Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3) |
COG4 |
Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3) |
COG5 |
Congenital disorder of glycosylation, type IIi, 613612 (3) |
COL10A1 |
Metaphyseal chondrodysplasia, Schmid type, 156500 (3) |
COL11A1 |
Fibrochondrogenesis 1, 228520 (3) {Lumbar disc herniation, susceptibility to}, 603932 (3) Marshall syndrome, 154780 (3) Stickler syndrome, type II, 604841 (3) |
COL11A2 |
Fibrochondrogenesis 2, 614524 (3) Deafness, autosomal dominant 13, 601868 (3) Deafness, autosomal recessive 53, 609706 (3) Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3) |
COL12A1 |
Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3) |
COL17A1 |
Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3) |
COL18A1 |
Knobloch syndrome, type 1, 267750 (3) |
COL1A2 |
{Osteoporosis, postmenopausal}, 166710 (3) Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3) Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3) |
COL25A1 |
Fibrosis of extraocular muscles, congenital, 5, 616219 (3) |
COL4A1 |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3) |
COL4A2 |
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3) |
COL4A4 |
Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3) |
COL4A5 |
Alport syndrome 1, X-linked, 301050 (3) |
COL5A1 |
Ehlers-Danlos syndrome, classic type, 1, 130000 (3) |
COL6A1 |
Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3) |
COL6A2 |
Bethlem myopathy 1, 158810 (3) ?Myosclerosis, congenital, 255600 (3) Ullrich congenital muscular dystrophy 1, 254090 (3) |
COL6A3 |
Bethlem myopathy 1, 158810 (3) Dystonia 27, 616411 (3) Ullrich congenital muscular dystrophy 1, 254090 (3) |
COL7A1 |
EBD inversa, 226600 (3) EBD, Bart type, 132000 (3) EBD, localisata variant (3) Epidermolysis bullosa dystrophica, AD, 131750 (3) Epidermolysis bullosa dystrophica, AR, 226600 (3) Epidermolysis bullosa pruriginosa, 604129 (3) Epidermolysis bullosa, pretibial, 131850 (3) Toenail dystrophy, isolated, 607523 (3) Transient bullous of the newborn, 131705 (3) |
COL8A2 |
Corneal dystrophy, Fuchs endothelial, 1, 136800 (3) Corneal dystrophy, posterior polymorphous 2, 609140 (3) |
COL9A2 |
Epiphyseal dysplasia, multiple, 2, 600204 (3) ?Stickler syndrome, type V, 614284 (3) |
COL9A3 |
{Intervertebral disc disease, susceptibility to}, 603932 (3) Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3) |
COLEC11 |
3MC syndrome 2, 265050 (3) |
COMT |
{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3) |
COQ2 |
Coenzyme Q10 deficiency, primary, 1, 607426 (3) {Multiple system atrophy, susceptibility to}, 146500 (3) |
COQ4 |
Coenzyme Q10 deficiency, primary, 7, 616276 (3) |
CORIN |
Preeclampsia/eclampsia 5, 614595 (3) |
CORO1A |
Immunodeficiency 8, 615401 (3) |
COX10 |
Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3) Mitochondrial complex IV deficiency, 220110 (3) |
COX6B1 |
Mitochondrial complex IV deficiency, 220110 (3) |
CPS1 |
Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3) |
CPT1A |
CPT deficiency, hepatic, type IA, 255120 (3) |
CR1 |
CR1 deficiency (1) {Malaria, severe, resistance to}, 611162 (3) [Blood group, Knops system], 607486 (3) {?SLE susceptibility} (1) |
CR2 |
Immunodeficiency, common variable, 7, 614699 (3) {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3) |
CRBN |
Mental retardation, autosomal recessive 2, 607417 (3) |
CRELD1 |
Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3) |
CRTAP |
Osteogenesis imperfecta, type VII, 610682 (3) |
CRYAA |
Cataract 9, multiple types, 604219 (3) |
CRYBA1 |
Cataract 10, multiple types, 600881 (3) |
CRYBB2 |
Cataract 3, multiple types, 601547 (3) |
CRYGD |
Cataract 4, multiple types, 115700 (3) |
CRYM |
Deafness, autosomal dominant 40, 616357 (3) |
CSF2RB |
Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3) |
CSF3R |
Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3) |
CSTA |
Peeling skin syndrome 4, 607936 (3) |
CTC1 |
Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) |
CTDP1 |
Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3) |
CTNNA3 |
Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3) |
CTNS |
Cystinosis, atypical nephropathic, 219800 (3) Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) Cystinosis, nephropathic, 219800 (3) Cystinosis, ocular nonnephropathic, 219750 (3) |
CTSB |
Keratolytic winter erythema, 148370 (4) |
CTSK |
Pycnodysostosis, 265800 (3) |
CUBN |
Megaloblastic anemia-1, Finnish type, 261100 (3) |
CUL7 |
3-M syndrome 1, 273750 (3) |
CX3CR1 |
{Macular degeneration, age-related, 12}, 613784 (3) {Rapid progression to AIDS from HIV1 infection}, 609423 (3) {Coronary artery disease, resistance to}, 607339 (3) |
CYB5A |
Methemoglobinemia and ambiguous genitalia, 250790 (3) |
CYP11B1 |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3) Aldosteronism, glucocorticoid-remediable, 103900 (3) |
CYP11B2 |
Aldosterone to renin ratio raised (3) {Low renin hypertension, susceptibility to} (3) Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3) |
CYP17A1 |
17,20-lyase deficiency, isolated, 202110 (3) 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3) |
CYP19A1 |
Aromatase deficiency, 613546 (3) Aromatase excess syndrome, 139300 (3) |
CYP1B1 |
Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) |
CYP21A2 |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3) |
CYP24A1 |
Hypercalcemia, infantile, 1, 143880 (3) |
CYP27A1 |
Cerebrotendinous xanthomatosis, 213700 (3) |
CYP2A6 |
{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3) |
CYP2B6 |
Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3) |
CYP2D6 |
{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3) |
CYP4V2 |
Bietti crystalline corneoretinal dystrophy, 210370 (3) |
D2HGDH |
D-2-hydroxyglutaric aciduria, 600721 (3) |
DAG1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3) |
DAZL |
{Spermatogenic failure, susceptibility to} (3) |
DCAF17 |
Woodhouse-Sakati syndrome, 241080 (3) |
DCDC2 |
?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3) |
DCLRE1C |
Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (3) |
DDOST |
?Congenital disorder of glycosylation, type Ir, 614507 (3) |
DDR2 |
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) Warburg-Cinotti syndrome, 618175 (3) |
DDX11 |
Warsaw breakage syndrome, 613398 (3) |
DDX58 |
Singleton-Merten syndrome 2, 616298 (3) |
DEAF1 |
?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3) Mental retardation, autosomal dominant 24, 615828 (3) |
DGCR2 |
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |
DGUOK |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) Portal hypertension, noncirrhotic, 617068 (3) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3) |
DHCR7 |
Smith-Lemli-Opitz syndrome, 270400 (3) |
DHODH |
Miller syndrome, 263750 (3) |
DIAPH3 |
Auditory neuropathy, autosomal dominant, 1, 609129 (3) |
DIP2B |
Mental retardation, FRA12A type, 136630 (3) |
DISC1 |
{Schizophrenia 9, susceptibility to}, 604906 (3) |
DLX3 |
Amelogenesis imperfecta, type IV, 104510 (3) Trichodontoosseous syndrome, 190320 (3) |
DMGDH |
Dimethylglycine dehydrogenase deficiency, 605850 (3) |
DMPK |
Myotonic dystrophy 1, 160900 (3) |
DNAAF1 |
Ciliary dyskinesia, primary, 13, 613193 (3) |
DNAH11 |
Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) |
DNAH5 |
Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) |
DNAH9 |
Ciliary dyskinesia, primary, 40, 618300 (3) |
DNAJC6 |
Parkinson disease 19a, juvenile-onset, 615528 (3) Parkinson disease 19b, early-onset, 615528 (3) |
DNASE1 |
{Systemic lupus erythematosus, susceptibility to}, 152700 (3) |
DNM1 |
Epileptic encephalopathy, early infantile, 31, 616346 (3) |
DNM2 |
Centronuclear myopathy 1, 160150 (3) Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3) Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) Lethal congenital contracture syndrome 5, 615368 (3) |
DNMT1 |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3) Neuropathy, hereditary sensory, type IE, 614116 (3) |
DNMT3A |
Acute myeloid leukemia, somatic, 601626 (3) Tatton-Brown-Rahman syndrome, 615879 (3) |
DOCK6 |
Adams-Oliver syndrome 2, 614219 (3) |
DOCK8 |
Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) |
DOK7 |
?Fetal akinesia deformation sequence, 208150 (3) Myasthenic syndrome, congenital, 10, 254300 (3) |
DPYD |
Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5-fluorouracil toxicity, 274270 (3) |
DRD4 |
Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3) |
DSC2 |
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3) Arrhythmogenic right ventricular dysplasia 11, 610476 (3) |
DSC3 |
?Hypotrichosis and recurrent skin vesicles, 613102 (3) |
DSG1 |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3) |
DSG2 |
Arrhythmogenic right ventricular dysplasia 10, 610193 (3) Cardiomyopathy, dilated, 1BB, 612877 (3) |
DSG4 |
Hypotrichosis 6, 607903 (3) |
DSP |
Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3) |
DST |
Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3) |
DUOX2 |
Thyroid dyshormonogenesis 6, 607200 (3) |
DYM |
Dyggve-Melchior-Clausen disease, 223800 (3) Smith-McCort dysplasia, 607326 (3) |
DYNC2H1 |
Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) |
EARS2 |
Combined oxidative phosphorylation deficiency 12, 614924 (3) |
ECM1 |
Urbach-Wiethe disease, 247100 (3) |
EDAR |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3) Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) [Hair morphology 1, hair thickness], 612630 (3) |
EDARADD |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3) Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3) |
EDN3 |
{Hirschsprung disease, susceptibility to, 4}, 613712 (3) Central hypoventilation syndrome, congenital, 209880 (3) Waardenburg syndrome, type 4B, 613265 (3) |
EFHC1 |
{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3) {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) |
EFTUD2 |
Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3) |
EGF |
Hypomagnesemia 4, renal, 611718 (3) |
EGFR |
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3) |
EGLN1 |
Erythrocytosis, familial, 3, 609820 (3) [Hemoglobin, high altitude adaptation], 609070 (3) |
EHMT1 |
Kleefstra syndrome 1, 610253 (3) |
EIF2AK3 |
Wolcott-Rallison syndrome, 226980 (3) |
EIF2B5 |
Leukoencephalopathy with vanishing white matter, 603896 (3) Ovarioleukodystrophy, 603896 (3) |
EIF4G1 |
{Parkinson disease 18}, 614251 (3) |
ELN |
Cutis laxa, autosomal dominant, 123700 (3) Supravalvar aortic stenosis, 185500 (3) |
ELOVL4 |
Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3) Spinocerebellar ataxia 34, 133190 (3) Stargardt disease 3, 600110 (3) |
ELP2 |
Mental retardation, autosomal recessive 58, 617270 (3) |
EMX2 |
Schizencephaly, 269160 (3) |
ENG |
Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3) |
ENO3 |
?Glycogen storage disease XIII, 612932 (3) |
ENPP1 |
Arterial calcification, generalized, of infancy, 1, 208000 (3) Cole disease, 615522 (3) Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) {Obesity, susceptibility to}, 601665 (3) {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3) |
EP300 |
Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3) |
EPHA2 |
Cataract 6, multiple types, 116600 (3) |
EPHX1 |
?Hypercholanemia, familial, 607748 (3) |
EPM2A |
Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) |
ERBB4 |
Amyotrophic lateral sclerosis 19, 615515 (3) |
ERCC1 |
Cerebrooculofacioskeletal syndrome 4, 610758 (3) |
ERCC4 |
Fanconi anemia, complementation group Q, 615272 (3) ?XFE progeroid syndrome, 610965 (3) Xeroderma pigmentosum, group F, 278760 (3) Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3) |
ESR1 |
{HDL response to hormone replacement, augmented} (3) Breast cancer, somatic, 114480 (3) {Migraine, susceptibility to}, 157300 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Estrogen resistance, 615363 (3) {Atherosclerosis, susceptibility to} (3) |
ESR2 |
?Ovarian dysgenesis 8, 618187 (3) |
ESRRB |
Deafness, autosomal recessive 35, 608565 (3) |
ETFB |
Glutaric acidemia IIB, 231680 (3) |
EVC |
Ellis-van Creveld syndrome, 225500 (3) ?Weyers acrofacial dysostosis, 193530 (3) |
EVC2 |
Ellis-van Creveld syndrome, 225500 (3) Weyers acrofacial dysostosis, 193530 (3) |
EXOSC3 |
Pontocerebellar hypoplasia, type 1B, 614678 (3) |
EXT1 |
Chondrosarcoma, 215300 (3) Exostoses, multiple, type 1, 133700 (3) |
EYA1 |
Anterior segment anomalies with or without cataract, 602588 (3) Branchiootic syndrome 1, 602588 (3) Branchiootorenal syndrome 1, with or without cataracts, 113650 (3) ?Otofaciocervical syndrome, 166780 (3) |
EYA4 |
Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3) |
EYS |
Retinitis pigmentosa 25, 602772 (3) |
F10 |
Factor X deficiency, 227600 (3) |
F5 |
Factor V deficiency, 227400 (3) {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) {Stroke, ischemic, susceptibility to}, 601367 (3) {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3) Thrombophilia due to activated protein C resistance, 188055 (3) {Budd-Chiari syndrome}, 600880 (3) |
FAAH |
{Drug addiction, susceptibility to}, 606581 (3) |
FAH |
Tyrosinemia, type I, 276700 (3) |
FAM126A |
Leukodystrophy, hypomyelinating, 5, 610532 (3) |
FAM134B |
Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) |
FAM161A |
Retinitis pigmentosa 28, 606068 (3) |
FAM20A |
Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3) |
FAM83H |
Amelogenesis imperfecta, type IIIA, 130900 (3) |
FANCA |
Fanconi anemia, complementation group A, 227650 (3) |
FANCD2 |
Fanconi anemia, complementation group D2, 227646 (3) |
FANCE |
Fanconi anemia, complementation group E, 600901 (3) |
FANCI |
Fanconi anemia, complementation group I, 609053 (3) |
FBN2 |
Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3) |
FBXO7 |
Parkinson disease 15, autosomal recessive, 260300 (3) |
FCGR2A |
{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3) |
FCGR3A |
Immunodeficiency 20, 615707 (3) |
FCN3 |
Immunodeficiency due to ficolin 3 deficiency, 613860 (3) |
FDFT1 |
Squalene synthase deficiency, 618156 (3) |
FECH |
Protoporphyria, erythropoietic, 1, 177000 (3) |
FGA |
Afibrinogenemia, congenital, 202400 (3) Amyloidosis, familial visceral, 105200 (3) Hypodysfibrinogenemia, congenital, 616004 (3) Dysfibrinogenemia, congenital, 616004 (3) |
FGF23 |
Hypophosphatemic rickets, autosomal dominant, 193100 (3) Osteomalacia, tumor-induced (1) Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3) |
FGF3 |
Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3) |
FGFR1 |
Hartsfield syndrome, 615465 (3) Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3) Encephalocraniocutaneous lipomatosis, 613001 (3) Jackson-Weiss syndrome, 123150 (3) Osteoglophonic dysplasia, 166250 (3) Pfeiffer syndrome, 101600 (3) Trigonocephaly 1, 190440 (3) |
FGFR2 |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3) |
FGFR3 |
Bladder cancer, somatic, 109800 (3) CATSHL syndrome, 610474 (3) Cervical cancer, somatic, 603956 (3) Hypochondroplasia, 146000 (3) Achondroplasia, 100800 (3) Colorectal cancer, somatic, 114500 (3) Crouzon syndrome with acanthosis nigricans, 612247 (3) LADD syndrome, 149730 (3) Muenke syndrome, 602849 (3) Nevus, epidermal, somatic, 162900 (3) SADDAN, 616482 (3) Spermatocytic seminoma, somatic, 273300 (3) Thanatophoric dysplasia, type I, 187600 (3) Thanatophoric dysplasia, type II, 187601 (3) |
FGFR4 |
{Cancer progression/metastasis} (3) |
FIG4 |
Amyotrophic lateral sclerosis 11, 612577 (3) Charcot-Marie-Tooth disease, type 4J, 611228 (3) ?Polymicrogyria, bilateral temporooccipital, 612691 (3) Yunis-Varon syndrome, 216340 (3) |
FLCN |
Birt-Hogg-Dube syndrome, 135150 (3) Colorectal cancer, somatic, 114500 (3) Pneumothorax, primary spontaneous, 173600 (3) Renal carcinoma, chromophobe, somatic, 144700 (3) |
FLNC |
Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (3) |
FLT4 |
Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (3) |
FLVCR2 |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3) |
FMN2 |
Mental retardation, autosomal recessive 47, 616193 (3) |
FMO3 |
Trimethylaminuria, 602079 (3) |
FN1 |
Glomerulopathy with fibronectin deposits 2, 601894 (3) Plasma fibronectin deficiency, 614101 (1) Spondylometaphyseal dysplasia, corner fracture type, 184255 (3) |
FOXC1 |
Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3) |
FOXD3 |
{Autoimmune disease, susceptibility to, 1}, 607836 (3) |
FOXN1 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) |
FRAS1 |
Fraser syndrome 1, 219000 (3) |
FREM1 |
Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3) |
FREM2 |
Fraser syndrome 2, 617666 (3) |
FSHB |
Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3) |
FSHR |
Ovarian dysgenesis 1, 233300 (3) Ovarian hyperstimulation syndrome, 608115 (3) Ovarian response to FSH stimulation, 276400 (3) |
FTCD |
Glutamate formiminotransferase deficiency, 229100 (3) |
FUS |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (3) |
FUT3 |
[Blood group, Lewis] (3) |
GAA |
Glycogen storage disease II, 232300 (3) |
GABRD |
{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3) {Epilepsy, idiopathic generalized, 10}, 613060 (3) {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3) |
GABRG2 |
Febrile seizures, familial, 8, 611277 (3) Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3) |
GAD1 |
?Cerebral palsy, spastic quadriplegic, 1, 603513 (3) |
GALC |
Krabbe disease, 245200 (3) |
GALNS |
Mucopolysaccharidosis IVA, 253000 (3) |
GATA2 |
{Leukemia, acute myeloid, susceptibility to}, 601626 (3) {Myelodysplastic syndrome, susceptibility to}, 614286 (3) Immunodeficiency 21, 614172 (3) Emberger syndrome, 614038 (3) |
GBE1 |
Glycogen storage disease IV, 232500 (3) Polyglucosan body disease, adult form, 263570 (3) |
GCDH |
Glutaricaciduria, type I, 231670 (3) |
GCGR |
{Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
GCKR |
[Fasting plasma glucose level QTL 5], 613463 (3) |
GCM2 |
Hyperparathyroidism 4, 617343 (3) Hypoparathyroidism, familial isolated, 146200 (3) |
GCNT2 |
Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3) |
GDAP1 |
Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3) Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3) Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) Charcot-Marie-Tooth disease, type 4A, 214400 (3) |
GDF3 |
Klippel-Feil syndrome 3, autosomal dominant, 613702 (3) Microphthalmia, isolated 7, 613704 (3) Microphthalmia with coloboma 6, 613703 (3) |
GDF5 |
Brachydactyly, type A1, C, 615072 (3) Brachydactyly, type A2, 112600 (3) Brachydactyly, type C, 113100 (3) Chondrodysplasia, Grebe type, 200700 (3) {Osteoarthritis-5}, 612400 (3) Du Pan syndrome, 228900 (3) Multiple synostoses syndrome 2, 610017 (3) ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) Symphalangism, proximal, 1B, 615298 (3) |
GEMIN4 |
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3) |
GFAP |
Alexander disease, 203450 (3) |
GGCX |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3) |
GHRL |
{Obesity, susceptibility to}, 601665 (3) |
GHSR |
Growth hormone deficiency, isolated partial, 615925 (3) |
GIF |
Intrinsic factor deficiency, 261000 (3) |
GJA3 |
Cataract 14, multiple types, 601885 (3) |
GJB2 |
Bart-Pumphrey syndrome, 149200 (3) Hystrix-like ichthyosis with deafness, 602540 (3) Deafness, autosomal dominant 3A, 601544 (3) Deafness, autosomal recessive 1A, 220290 (3) Keratitis-ichthyosis-deafness syndrome, 148210 (3) Keratoderma, palmoplantar, with deafness, 148350 (3) Vohwinkel syndrome, 124500 (3) |
GJB3 |
Deafness, autosomal dominant 2B, 612644 (3) Deafness, autosomal dominant, with peripheral neuropathy (3) Deafness, autosomal recessive (3) Deafness, digenic, GJB2/GJB3, 220290 (3) Erythrokeratodermia variabilis et progressiva 1, 133200 (3) |
GJB4 |
Erythrokeratodermia variabilis et progressiva 2, 617524 (3) |
GJC2 |
Leukodystrophy, hypomyelinating, 2, 608804 (3) Lymphatic malformation 3, 613480 (3) Spastic paraplegia 44, autosomal recessive, 613206 (3) |
GLB1 |
GM1-gangliosidosis, type I, 230500 (3) GM1-gangliosidosis, type II, 230600 (3) GM1-gangliosidosis, type III, 230650 (3) Mucopolysaccharidosis type IVB (Morquio), 253010 (3) |
GLCCI1 |
{Glucocorticoid therapy, response to}, 614400 (3) |
GLDC |
Glycine encephalopathy, 605899 (3) |
GLI1 |
Polydactyly, postaxial, type A8, 618123 (3) |
GLI2 |
Holoprosencephaly 9, 610829 (3) Culler-Jones syndrome, 615849 (3) |
GLI3 |
{Hypothalamic hamartomas, somatic}, 241800 (3) Greig cephalopolysyndactyly syndrome, 175700 (3) Pallister-Hall syndrome, 146510 (3) Polydactyly, postaxial, types A1 and B, 174200 (3) Polydactyly, preaxial, type IV, 174700 (3) |
GLIS2 |
Nephronophthisis 7, 611498 (3) |
GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) |
GLRX5 |
Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3) Spasticity, childhood-onset, with hyperglycinemia, 616859 (3) |
GLUD1 |
Hyperinsulinism-hyperammonemia syndrome, 606762 (3) |
GNAI2 |
Pituitary ACTH-secreting adenoma (3) Ventricular tachycardia, idiopathic, 192605 (3) |
GNAS |
ACTH-independent macronodular adrenal hyperplasia, 219080 (3) McCune-Albright syndrome, somatic, mosaic 174800 (3) Osseous heteroplasia, progressive, 166350 (3) Pituitary adenoma 3, multiple types, somatic, 617686 (3) Pseudohypoparathyroidism Ia, 103580 (3) Pseudohypoparathyroidism Ib, 603233 (3) Pseudohypoparathyroidism Ic, 612462 (3) Pseudopseudohypoparathyroidism, 612463 (3) |
GNPAT |
Rhizomelic chondrodysplasia punctata, type 2, 222765 (3) |
GOT1 |
Aspartate aminotransferase, serum level of, QTL1, 614419 (3) |
GP1BA |
Bernard-Soulier syndrome, type A1 (recessive), 231200 (3) Bernard-Soulier syndrome, type A2 (dominant), 153670 (3) {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3) von Willebrand disease, platelet-type, 177820 (3) |
GP6 |
Bleeding disorder, platelet-type, 11, 614201 (3) |
GPC3 |
Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) Wilms tumor, somatic, 194070 (3) |
GPC6 |
Omodysplasia 1, 258315 (3) |
GPI |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3) |
GPIHBP1 |
Hyperlipoproteinemia, type 1D, 615947 (3) |
GPR179 |
Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) |
GPR68 |
Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3) |
GPSM2 |
Chudley-McCullough syndrome, 604213 (3) |
GPX1 |
Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1) |
GPX4 |
Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3) |
GRIK2 |
Mental retardation, autosomal recessive, 6, 611092 (3) |
GRIN2A |
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3) |
GRIN2B |
Epileptic encephalopathy, early infantile, 27, 616139 (3) Mental retardation, autosomal dominant 6, 613970 (3) |
GRM1 |
Spinocerebellar ataxia 44, 617691 (3) Spinocerebellar ataxia, autosomal recessive 13, 614831 (3) |
GRM6 |
Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3) |
GSN |
Amyloidosis, Finnish type, 105120 (3) |
GSTZ1 |
[Maleylacetoacetate isomerase deficiency], 617596 (3) |
GYPB |
{Malaria, resistance to}, 611162 (3) [Blood group, Ss], 111740 (3) |
GYPC |
{Malaria, resistance to}, 611162 (3) [Blood group, Gerbich], 616089 (3) |
GYS1 |
Glycogen storage disease 0, muscle, 611556 (3) |
GYS2 |
Glycogen storage disease 0, liver, 240600 (3) |
H6PD |
Cortisone reductase deficiency 1, 604931 (3) |
HABP2 |
{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3) |
HAL |
[Histidinemia], 235800 (3) |
HBEGF |
{Diphtheria, susceptibility to} (1) |
HCN4 |
Brugada syndrome 8, 613123 (3) Sick sinus syndrome 2, 163800 (3) |
HEPACAM |
Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3) |
HERC2 |
Mental retardation, autosomal recessive 38, 615516 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) |
HES7 |
Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) |
HEXA |
GM2-gangliosidosis, several forms, 272800 (3) Tay-Sachs disease, 272800 (3) [Hex A pseudodeficiency], 272800 (3) |
HEXB |
Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) |
HGD |
Alkaptonuria, 203500 (3) |
HIBCH |
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) |
HK1 |
Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3) |
HLA-A |
{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) |
HLA-B |
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3) |
HLA-C |
{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3) |
HLA-DQA1 |
{Celiac disease, susceptibility to}, 212750 (3) |
HLA-DRB1 |
{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3) |
HLA-G |
{Asthma, susceptibility to}, 600807 (2) |
HMCN1 |
{Macular degeneration, age-related, 1}, 603075 (3) |
HMGCR |
[Low density lipoprotein cholesterol level QTL 3] (3) [Statins, attenuated cholesterol lowering by] (3) |
HNF1A |
Hepatic adenoma, somatic, 142330 (3) Diabetes mellitus, insulin-dependent, 20, 612520 (3) MODY, type III, 600496 (3) Renal cell carcinoma, 144700 (3) {Diabetes mellitus, insulin-dependent}, 222100 (3) {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3) |
HNF1B |
Diabetes mellitus, noninsulin-dependent, 125853 (3) {Renal cell carcinoma}, 144700 (3) Renal cysts and diabetes syndrome, 137920 (3) |
HNMT |
Mental retardation, autosomal recessive 51, 616739 (3) {Asthma, susceptibility to}, 600807 (3) |
HOGA1 |
Hyperoxaluria, primary, type III, 613616 (3) |
HOXA13 |
Guttmacher syndrome, 176305 (3) Hand-foot-uterus syndrome, 140000 (3) |
HOXB13 |
{Prostate cancer, hereditary, 9}, 610997 (3) |
HOXD13 |
Brachydactyly, type D, 113200 (3) Brachydactyly, type E, 113300 (3) ?Brachydactyly-syndactyly syndrome, 610713 (3) Syndactyly, type V, 186300 (3) Synpolydactyly 1, 186000 (3) |
HPS1 |
Hermansky-Pudlak syndrome 1, 203300 (3) |
HPS3 |
Hermansky-Pudlak syndrome 3, 614072 (3) |
HPS4 |
Hermansky-Pudlak syndrome 4, 614073 (3) |
HPS6 |
Hermansky-Pudlak syndrome 6, 614075 (3) |
HR |
Alopecia universalis, 203655 (3) Atrichia with papular lesions, 209500 (3) Hypotrichosis 4, 146550 (3) |
HRG |
Thrombophilia due to HRG deficiency, 613116 (3) Thrombophilia due to elevated HRG, 613116 (1) |
HSD17B4 |
D-bifunctional protein deficiency, 261515 (3) Perrault syndrome 1, 233400 (3) |
HSPA9 |
Anemia, sideroblastic, 4, 182170 (3) Even-plus syndrome, 616854 (3) |
HTR2A |
{Major depressive disorder, response to citalopram therapy in}, 608516 (3) {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Seasonal affective disorder, susceptibility to}, 608516 (3) {Alcohol dependence, susceptibility to}, 103780 (3) {Anorexia nervosa, susceptibility to}, 606788 (3) |
HTRA1 |
CARASIL syndrome, 600142 (3) Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3) {Macular degeneration, age-related, 7}, 610149 (3) {Macular degeneration, age-related, neovascular type}, 610149 (3) |
HYDIN |
Ciliary dyskinesia, primary, 5, 608647 (3) |
HYLS1 |
Hydrolethalus syndrome, 236680 (3) |
IDUA |
Mucopolysaccharidosis Ih, 607014 (3) Mucopolysaccharidosis Ih/s, 607015 (3) Mucopolysaccharidosis Is, 607016 (3) |
IFIH1 |
Aicardi-Goutieres syndrome 7, 615846 (3) Singleton-Merten syndrome 1, 182250 (3) |
IFITM3 |
{Influenza, severe, susceptibility to}, 614680 (3) |
IFNAR2 |
{Hepatitis B virus, susceptibility to}, 610424 (3) ?Immunodeficiency 45, 616669 (3) |
IFNGR1 |
{H. pylori infection, susceptibility to}, 600263 (3) {Hepatitis B virus infection, susceptibility to}, 610424 (3) Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3) {Tuberculosis infection, protection against}, 607948 (3) {Tuberculosis, susceptibility to}, 607948 (3) |
IFT80 |
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) |
IGF1R |
Insulin-like growth factor I, resistance to, 270450 (3) |
IGF2R |
Hepatocellular carcinoma, somatic, 114550 (3) |
IGFALS |
Acid-labile subunit, deficiency of, 615961 (3) |
IGHMBP2 |
Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) Neuronopathy, distal hereditary motor, type VI, 604320 (3) |
IHH |
Brachydactyly, type A1, 112500 (3) Acrocapitofemoral dysplasia, 607778 (3) |
IKBKAP |
Dysautonomia, familial, 223900 (3) |
IL17RA |
Immunodeficiency 51, 613953 (3) |
IL21 |
?Immunodeficiency, common variable, 11, 615767 (3) |
IL23R |
{Inflammatory bowel disease 17, protection against}, 612261 (3) {Psoriasis, protection against}, 605606 (3) |
IL31RA |
?Amyloidosis, primary localized cutaneous, 2, 613955 (3) |
IL7 |
{?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3) |
IL7R |
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) |
ILDR1 |
Deafness, autosomal recessive 42, 609646 (3) |
IMPDH1 |
Leber congenital amaurosis 11, 613837 (3) Retinitis pigmentosa 10, 180105 (3) |
INF2 |
Glomerulosclerosis, focal segmental, 5, 613237 (3) Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) |
INSL3 |
Cryptorchidism, 219050 (3) |
INSR |
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) Leprechaunism, 246200 (3) Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) Rabson-Mendenhall syndrome, 262190 (3) |
IQCB1 |
Senior-Loken syndrome 5, 609254 (3) |
IQSEC2 |
Mental retardation, X-linked 1/78, 309530 (3) |
IRAK3 |
{Asthma susceptibility 5}, 611064 (3) |
IRF4 |
[Skin/hair/eye pigmentation, variation in, 8], 611724 (3) |
IRF5 |
{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) |
IRF6 |
{Orofacial cleft 6}, 608864 (3) Popliteal pterygium syndrome 1, 119500 (3) van der Woude syndrome, 119300 (3) |
IRF7 |
?Immunodeficiency 39, 616345 (3) |
IRF8 |
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3) Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3) |
IRS2 |
{Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
ITGA2B |
Glanzmann thrombasthenia, 273800 (3) Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) Thrombocytopenia, neonatal alloimmune, BAK antigen related (3) |
ITGA3 |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3) |
ITGA7 |
Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) |
ITGB4 |
Epidermolysis bullosa of hands and feet, 131800 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) |
ITM2B |
Dementia, familial British, 176500 (3) Dementia, familial Danish, 117300 (3) ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3) |
ITPA |
Epileptic encephalopathy, early infantile, 35, 616647 (3) [Inosine triphosphatase deficiency], 613850 (3) |
ITPKC |
{Kawasaki disease, susceptibility to}, 611775 (3) |
ITPR1 |
Gillespie syndrome, 206700 (3) Spinocerebellar ataxia 15, 606658 (3) Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3) |
ITPR3 |
{Diabetes, type 1, susceptibility to}, 222100 (2) |
IYD |
Thyroid dyshormonogenesis 4, 274800 (3) |
JAG1 |
Alagille syndrome 1, 118450 (3) ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3) Tetralogy of Fallot, 187500 (3) |
JAK2 |
Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3) |
JPH2 |
Cardiomyopathy, hypertrophic, 17, 613873 (3) |
JPH3 |
Huntington disease-like 2, 606438 (3) |
JUP |
Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3) |
KALRN |
{Coronary heart disease, susceptibility to, 5}, 608901 (3) |
KANK1 |
Cerebral palsy, spastic quadriplegic, 2, 612900 (3) |
KANSL1 |
Koolen-De Vries syndrome, 610443 (3) |
KARS |
Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) |
KAT6B |
Genitopatellar syndrome, 606170 (3) SBBYSS syndrome, 603736 (3) |
KCNC3 |
Spinocerebellar ataxia 13, 605259 (3) |
KCNH2 |
{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3) Long QT syndrome 2, 613688 (3) Short QT syndrome 1, 609620 (3) |
KCNJ1 |
Bartter syndrome, type 2, 241200 (3) |
KCNJ11 |
Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) Diabetes mellitus, transient neonatal, 3, 610582 (3) Diabetes, permanent neonatal, with or without neurologic features, 606176 (3) Maturity-onset diabetes of the young, type 13, 616329 (3) {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) |
KCNJ6 |
Keppen-Lubinsky syndrome, 614098 (3) |
KCNK18 |
{Migraine, with or without aura, susceptibility to, 13}, 613656 (3) |
KCNMB1 |
{Hypertension, diastolic, resistance to}, 608622 (3) |
KCNQ1 |
Atrial fibrillation, familial, 3, 607554 (3) {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) Long QT syndrome 1, 192500 (3) Jervell and Lange-Nielsen syndrome, 220400 (3) Short QT syndrome 2, 609621 (3) |
KCNQ2 |
Epileptic encephalopathy, early infantile, 7, 613720 (3) Myokymia, 121200 (3) Seizures, benign neonatal, 1, 121200 (3) |
KCNQ4 |
Deafness, autosomal dominant 2A, 600101 (3) |
KCTD7 |
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) |
KDR |
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3) Hemangioma, capillary infantile, somatic, 602089 (3) |
KEL |
[Blood group, Kell], 110900 (3) |
KIF1A |
Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3) |
KIF1B |
{Neuroblastoma, susceptibility to, 1}, 256700 (3) Pheochromocytoma, 171300 (3) ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3) |
KISS1 |
?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3) |
KL |
?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3) |
KLF11 |
Maturity-onset diabetes of the young, type VII, 610508 (3) |
KLHL3 |
Pseudohypoaldosteronism, type IID, 614495 (3) |
KLHL7 |
Cold-induced sweating syndrome 3, 617055 (3) Retinitis pigmentosa 42, 612943 (3) |
KMT2C |
Kleefstra syndrome 2, 617768 (3) |
KRT1 |
Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3) |
KRT2 |
Ichthyosis bullosa of Siemens, 146800 (3) |
KRT3 |
Meesmann corneal dystrophy, 122100 (3) |
KRT5 |
Dowling-Degos disease 1, 179850 (3) Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) Epidermolysis bullosa simplex, Koebner type, 131900 (3) Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) Epidermolysis bullosa simplex, recessive 1, 601001 (3) Epidermolysis bullosa simplex-MCR, 609352 (3) Epidermolysis bullosa simplex-MP, 131960 (3) |
KRT6B |
Pachyonychia congenita 4, 615728 (3) |
KRT74 |
?Ectodermal dysplasia 7, hair/nail type, 614929 (3) ?Hypotrichosis 3, 613981 (3) Woolly hair, autosomal dominant, 194300 (3) |
KRT75 |
{Pseudofolliculitis barbae, susceptibility to}, 612318 (3) |
KRT8 |
Cirrhosis, cryptogenic, 215600 (3) {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) |
KRT81 |
Monilethrix, 158000 (3) |
KRT83 |
Erythrokeratodermia variabilis et progressiva 5, 617756 (3) Monilethrix, 158000 (3) |
KRT86 |
Monilethrix, 158000 (3) |
L2HGDH |
L-2-hydroxyglutaric aciduria, 236792 (3) |
LAMA1 |
Poretti-Boltshauser syndrome, 615960 (3) |
LAMA2 |
Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3) |
LAMA3 |
Epidermolysis bullosa, generalized atrophic benign, 226650 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Laryngoonychocutaneous syndrome, 245660 (3) |
LAMA4 |
Cardiomyopathy, dilated, 1JJ, 615235 (3) |
LAMB1 |
Lissencephaly 5, 615191 (3) |
LAMB3 |
Amelogenesis imperfecta, type IA, 104530 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) |
LAMC3 |
Cortical malformations, occipital, 614115 (3) |
LARGE |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3) |
LARS2 |
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3) Perrault syndrome 4, 615300 (3) |
LCA5 |
Leber congenital amaurosis 5, 604537 (3) |
LCT |
Lactase deficiency, congenital, 223000 (3) |
LDB3 |
Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3) Cardiomyopathy, hypertrophic, 24, 601493 (3) Left ventricular noncompaction 3, 601493 (3) Myopathy, myofibrillar, 4, 609452 (3) |
LDHA |
Glycogen storage disease XI, 612933 (3) |
LDLR |
Hypercholesterolemia, familial, 143890 (3) LDL cholesterol level QTL2, 143890 (3) |
LDLRAP1 |
Hypercholesterolemia, familial, autosomal recessive, 603813 (3) |
LEMD3 |
Buschke-Ollendorff syndrome, 166700 (3) Osteopoikilosis with or without melorheostosis, 166700 (3) |
LFNG |
Spondylocostal dysostosis 3, autosomal recessive, 609813 (3) |
LHCGR |
Leydig cell adenoma, somatic, with precocious puberty, 176410 (3) Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3) Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3) Luteinizing hormone resistance, female, 238320 (3) Precocious puberty, male, 176410 (3) |
LHX3 |
Pituitary hormone deficiency, combined, 3, 221750 (3) |
LHX4 |
Pituitary hormone deficiency, combined, 4, 262700 (3) |
LIFR |
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) |
LIPC |
Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
LIPE |
Lipodystrophy, familial partial, type 6, 615980 (3) |
LIPI |
{Hypertriglyceridemia, susceptibility to}, 145750 (3) |
LMAN1 |
Combined factor V and VIII deficiency, 227300 (3) |
LMF1 |
Lipase deficiency, combined, 246650 (3) |
LMNB2 |
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3) ?Epilepsy, progressive myoclonic, 9, 616540 (3) |
LMX1B |
Nail-patella syndrome, 161200 (3) |
LOR |
Vohwinkel syndrome with ichthyosis, 604117 (3) |
LOXHD1 |
Deafness, autosomal recessive 77, 613079 (3) |
LOXL1 |
{Exfoliation syndrome, susceptibility to}, 177650 (3) |
LPA |
[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1) |
LPIN1 |
Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) |
LPP |
Leukemia, acute myeloid, 601626 (3) Lipoma (3) |
LRP1 |
?Keratosis pilaris atrophicans, 604093 (3) |
LRP2 |
Donnai-Barrow syndrome, 222448 (3) |
LRP4 |
Cenani-Lenz syndactyly syndrome, 212780 (3) ?Myasthenic syndrome, congenital, 17, 616304 (3) Sclerosteosis 2, 614305 (3) |
LRP5 |
Hyperostosis, endosteal, 144750 (3) {Osteoporosis}, 166710 (3) Exudative vitreoretinopathy 4, 601813 (3) Osteopetrosis, autosomal dominant 1, 607634 (3) Osteoporosis-pseudoglioma syndrome, 259770 (3) Osteosclerosis, 144750 (3) Polycystic liver disease 4 with or without kidney cysts, 617875 (3) [Bone mineral density variability 1], 601884 (3) van Buchem disease, type 2, 607636 (3) |
LRPPRC |
Leigh syndrome, French-Canadian type, 220111 (3) |
LRRC6 |
Ciliary dyskinesia, primary, 19, 614935 (3) |
LRRC8A |
?Agammaglobulinemia 5, 613506 (3) |
LRRK2 |
{Parkinson disease 8}, 607060 (3) |
LRSAM1 |
Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3) |
LTA |
{Leprosy, susceptibility to, 4}, 610988 (3) {Myocardial infarction, susceptibility to}, 608446 (3) {Psoriatic arthritis, susceptibility to}, 607507 (3) |
LTBP2 |
Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3) |
MAD1L1 |
Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3) |
MAK |
Retinitis pigmentosa 62, 614181 (3) |
MAN2B1 |
Mannosidosis, alpha-, types I and II, 248500 (3) |
MANBA |
Mannosidosis, beta, 248510 (3) |
MAP2K2 |
Cardiofaciocutaneous syndrome 4, 615280 (3) |
MAP3K1 |
46XY sex reversal 6, 613762 (3) |
MAPK8IP1 |
{Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
MASP2 |
MASP2 deficiency, 613791 (3) |
MAT1A |
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3) |
MATN3 |
{Osteoarthritis susceptibility 2}, 140600 (3) Epiphyseal dysplasia, multiple, 5, 607078 (3) ?Spondyloepimetaphyseal dysplasia, 608728 (3) |
MC1R |
{Melanoma, cutaneous malignant, 5}, 613099 (3) {UV-induced skin damage}, 266300 (3) [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) {Albinism, oculocutaneous, type II, modifier of}, 203200 (3) |
MC4R |
Obesity, autosomal dominant, 601665 (3) |
MCEE |
Methylmalonyl-CoA epimerase deficiency, 251120 (3) |
MCM3AP |
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3) |
MCOLN1 |
Mucolipidosis IV, 252650 (3) |
MCPH1 |
Microcephaly 1, primary, autosomal recessive, 251200 (3) |
MED17 |
Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) |
MED25 |
Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3) |
MEF2A |
{Coronary artery disease, autosomal dominant, 1}, 608320 (3) |
MEFV |
Familial Mediterranean fever, AD, 134610 (3) Familial Mediterranean fever, AR, 249100 (3) |
MEN1 |
Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1, 131100 (3) Parathyroid adenoma, somatic (3) |
MERTK |
Retinitis pigmentosa 38, 613862 (3) |
MET |
Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3) |
MFF |
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3) |
MFRP |
Microphthalmia, isolated 5, 611040 (3) Nanophthalmos 2, 609549 (3) |
MKKS |
Bardet-Biedl syndrome 6, 605231 (3) McKusick-Kaufman syndrome, 236700 (3) |
MKL1 |
Megakaryoblastic leukemia, acute (3) |
MLC1 |
Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |
MLH3 |
Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3) |
MMAB |
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) |
MME |
Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3) ?Spinocerebellar ataxia 43, 617018 (3) |
MMP1 |
COPD, rate of decline of lung function in, 606963 (3) {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3) |
MMP14 |
?Winchester syndrome, 277950 (3) |
MMP20 |
Amelogenesis imperfecta, type IIA2, 612529 (3) |
MMP9 |
Metaphyseal anadysplasia 2, 613073 (3) |
MNX1 |
Currarino syndrome, 176450 (3) |
MOCOS |
Xanthinuria, type II, 603592 (3) |
MOG |
?Narcolepsy 7, 614250 (3) |
MPDZ |
Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3) |
MR1 |
Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3) |
MRPL3 |
Combined oxidative phosphorylation deficiency 9, 614582 (3) |
MSH3 |
Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3) |
MSH5 |
?Premature ovarian failure 13, 617442 (3) |
MSR1 |
Barrett esophagus/esophageal adenocarcinoma, 614266 (3) |
MSX1 |
Ectodermal dysplasia 3, Witkop type, 189500 (3) Orofacial cleft 5, 608874 (3) Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3) |
MTHFD1 |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |
MTHFR |
Homocystinuria due to MTHFR deficiency, 236250 (3) {Neural tube defects, susceptibility to}, 601634 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Thromboembolism, susceptibility to}, 188050 (3) {Vascular disease, susceptibility to} (3) |
MTR |
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |
MTRR |
Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |
MTTP |
Abetalipoproteinemia, 200100 (3) {Metabolic syndrome, protection against}, 605552 (3) |
MUC1 |
Medullary cystic kidney disease 1, 174000 (3) |
MUC5B |
{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) |
MUC7 |
{Asthma, protection against}, 600807 (3) |
MUT |
Methylmalonic aciduria, mut(0) type, 251000 (3) |
MVK |
Hyper-IgD syndrome, 260920 (3) Mevalonic aciduria, 610377 (3) Porokeratosis 3, multiple types, 175900 (3) |
MYH11 |
Aortic aneurysm, familial thoracic 4, 132900 (3) |
MYH14 |
Deafness, autosomal dominant 4A, 600652 (3) ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3) |
MYH2 |
Proximal myopathy and ophthalmoplegia, 605637 (3) |
MYH3 |
Arthrogryposis, distal, type 2A, 193700 (3) Arthrogryposis, distal, type 2B, 601680 (3) Arthrogryposis, distal, type 8, 178110 (3) |
MYH6 |
Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3) |
MYH8 |
Carney complex variant, 608837 (3) Trismus-pseudocamptodactyly syndrome, 158300 (3) |
MYLK |
Aortic aneurysm, familial thoracic 7, 613780 (3) |
MYO15A |
Deafness, autosomal recessive 3, 600316 (3) |
MYO18B |
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3) |
MYO1E |
Glomerulosclerosis, focal segmental, 6, 614131 (3) |
MYO3A |
Deafness, autosomal recessive 30, 607101 (3) |
MYO5A |
Griscelli syndrome, type 1, 214450 (3) |
MYO5B |
Microvillus inclusion disease, 251850 (3) |
MYO7A |
Deafness, autosomal dominant 11, 601317 (3) Deafness, autosomal recessive 2, 600060 (3) Usher syndrome, type 1B, 276900 (3) |
MYO9B |
{Celiac disease, susceptibility to, 4}, 609753 (3) |
MYOC |
Glaucoma 1A, primary open angle, 137750 (3) |
MYPN |
Cardiomyopathy, dilated, 1KK, 615248 (3) Cardiomyopathy, familial restrictive, 4, 615248 (3) Cardiomyopathy, hypertrophic, 22, 615248 (3) Nemaline myopathy 11, autosomal recessive, 617336 (3) |
NAGS |
N-acetylglutamate synthase deficiency, 237310 (3) |
NAT2 |
[Acetylation, slow], 243400 (3) |
NBAS |
Infantile liver failure syndrome 2, 616483 (3) Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3) |
NBEAL2 |
Gray platelet syndrome, 139090 (3) |
NBN |
Aplastic anemia, 609135 (3) Leukemia, acute lymphoblastic, 613065 (3) Nijmegen breakage syndrome, 251260 (3) |
NCF4 |
?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3) |
NCR3 |
{Malaria, mild, susceptibility to}, 609148 (3) |
NDN |
Prader-Willi syndrome, 176270 (3) |
NDUFAF2 |
Mitochondrial complex I deficiency, nuclear type 10, 618233 (3) |
NDUFAF4 |
Mitochondrial complex I deficiency, nuclear type 15, 618237 (3) |
NDUFS1 |
Mitochondrial complex I deficiency, nuclear type 5, 618226 (3) |
NDUFS2 |
Mitochondrial complex I deficiency, nuclear type 6, 618228 (3) |
NDUFS3 |
Mitochondrial complex I deficiency, nuclear type 8, 618230 (3) |
NDUFS4 |
Mitochondrial complex I deficiency, nuclear type 1, 252010 (3) |
NDUFS7 |
Mitochondrial complex I deficiency, nuclear type 3, 618224 (3) |
NEB |
Nemaline myopathy 2, autosomal recessive, 256030 (3) |
NEDD4L |
Periventricular nodular heterotopia 7, 617201 (3) |
NEUROG3 |
Diarrhea 4, malabsorptive, congenital, 610370 (3) |
NFIA |
Brain malformations with or without urinary tract defects, 613735 (3) |
NFKB1 |
Immunodeficiency, common variable, 12, 616576 (3) |
NFKBIA |
Ectodermal dysplasia and immunodeficiency 2, 612132 (3) |
NFU1 |
Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) |
NGF |
Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) |
NIPA1 |
Spastic paraplegia 6, autosomal dominant, 600363 (3) |
NKX2-6 |
Conotruncal heart malformations, 217095 (3) Persistent truncus arteriosus, 217095 (3) |
NLRP1 |
Autoinflammation with arthritis and dyskeratosis, 617388 (3) {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Palmoplantar carcinoma, multiple self-healing, 615225 (3) |
NME8 |
Ciliary dyskinesia, primary, 6, 610852 (3) |
NODAL |
Heterotaxy, visceral, 5, 270100 (3) |
NOP56 |
Spinocerebellar ataxia 36, 614153 (3) |
NOTCH1 |
Adams-Oliver syndrome 5, 616028 (3) Aortic valve disease 1, 109730 (3) |
NOTCH2 |
Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3) |
NOTCH3 |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3) Lateral meningocele syndrome, 130720 (3) ?Myofibromatosis, infantile 2, 615293 (3) |
NPC1 |
Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3) |
NPC1 |
{Nasopharyngeal carcinoma 1} (2) |
NPC1L1 |
[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (3) |
NPHP1 |
Joubert syndrome 4, 609583 (3) Nephronophthisis 1, juvenile, 256100 (3) Senior-Loken syndrome-1, 266900 (3) |
NPHP3 |
Meckel syndrome 7, 267010 (3) Nephronophthisis 3, 604387 (3) Renal-hepatic-pancreatic dysplasia 1, 208540 (3) |
NPHP4 |
Nephronophthisis 4, 606966 (3) Senior-Loken syndrome 4, 606996 (3) |
NPPA |
Atrial fibrillation, familial, 6, 612201 (3) Atrial standstill 2, 615745 (3) |
NPSR1 |
{Asthma, susceptibility to, 2}, 608584 (3) |
NQO1 |
{Leukemia, post-chemotherapy, susceptibility to} (3) {Benzene toxicity, susceptibility to} (3) {Breast cancer, poor survival after chemotherapy for} (3) |
NQO2 |
{?Breast cancer susceptibility}, 114480 (1) |
NR3C1 |
Glucocorticoid resistance, 615962 (3) |
NR3C2 |
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3) |
NRG1 |
{?Schizophrenia, susceptibility to}, 603013 (1) |
NRIP1 |
?Congenital anomalies of kidney and urinary tract 3, 618270 (3) |
NRXN1 |
{Schizophrenia, susceptibility to, 17}, 614332 (3) Pitt-Hopkins-like syndrome 2, 614325 (3) |
NSD1 |
Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3) |
NSUN2 |
Mental retardation, autosomal recessive 5, 611091 (3) |
NT5C3A |
Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) |
NTRK1 |
Insensitivity to pain, congenital, with anhidrosis, 256800 (3) Medullary thyroid carcinoma, familial, 155240 (3) |
NUP155 |
?Atrial fibrillation 15, 615770 (3) |
NUP62 |
Striatonigral degeneration, infantile, 271930 (3) |
OCA2 |
Albinism, brown oculocutaneous, 203200 (3) Albinism, oculocutaneous, type II, 203200 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) |
OPN1SW |
Colorblindness, tritan, 190900 (3) |
OPTN |
{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3) |
ORAI1 |
Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3) |
OSMR |
Amyloidosis, primary localized cutaneous, 1, 105250 (3) |
OTOA |
Deafness, autosomal recessive 22, 607039 (3) |
OTOF |
Auditory neuropathy, autosomal recessive, 1, 601071 (3) Deafness, autosomal recessive 9, 601071 (3) |
P2RY12 |
Bleeding disorder, platelet-type, 8, 609821 (3) |
PANK2 |
HARP syndrome, 607236 (3) Neurodegeneration with brain iron accumulation 1, 234200 (3) |
PAX2 |
Glomerulosclerosis, focal segmental, 7, 616002 (3) Papillorenal syndrome, 120330 (3) |
PAX4 |
Diabetes mellitus, type 2, 125853 (3) Maturity-onset diabetes of the young, type IX, 612225 (3) {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3) |
PAX7 |
Rhabdomyosarcoma 2, alveolar, 268220 (3) |
PCCA |
Propionicacidemia, 606054 (3) |
PCK1 |
?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3) |
PCNT |
Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) |
PDGFRA |
Gastrointestinal stromal tumor, somatic, 606764 (3) Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) |
PDHB |
Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) |
PDHX |
Lacticacidemia due to PDX1 deficiency, 245349 (3) |
PEPD |
Prolidase deficiency, 170100 (3) |
PER2 |
Advanced sleep phase syndrome, familial, 1, 604348 (3) |
PER3 |
?Advanced sleep phase syndrome, familial, 3, 616882 (3) |
PEX10 |
Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3) Peroxisome biogenesis disorder 6B, 614871 (3) |
PEX14 |
Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3) |
PEX16 |
Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3) Peroxisome biogenesis disorder 8B, 614877 (3) |
PEX6 |
Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3) |
PFN1 |
Amyotrophic lateral sclerosis 18, 614808 (3) |
PGM1 |
Congenital disorder of glycosylation, type It, 614921 (3) |
PHKG2 |
Glycogen storage disease IXc, 613027 (3) Cirrhosis due to liver phosphorylase kinase deficiency (3) |
PHOX2B |
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3) {Neuroblastoma, susceptibility to, 2}, 613013 (3) Neuroblastoma with Hirschsprung disease, 613013 (3) |
PIEZO2 |
Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3) |
PIGN |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) |
PIGO |
Hyperphosphatasia with mental retardation syndrome 2, 614749 (3) |
PIK3CA |
CLAPO syndrome, somatic, 613089 (3) CLOVE syndrome, somatic, 612918 (3) Gastric cancer, somatic, 613659 (3) Breast cancer, somatic, 114480 (3) Hepatocellular carcinoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 5, 615108 (3) Keratosis, seborrheic, somatic, 182000 (3) Macrodactyly, somatic, 155500 (3) Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3) Nevus, epidermal, somatic, 162900 (3) Nonsmall cell lung cancer, somatic, 211980 (3) Ovarian cancer, somatic, 167000 (3) |
PIK3CD |
Immunodeficiency 14, 615513 (3) |
PIK3R1 |
Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3) |
PIP5K1C |
Lethal congenital contractural syndrome 3, 611369 (3) |
PITPNM3 |
Cone-rod dystrophy 5, 600977 (3) |
PITX1 |
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4) |
PKD1 |
Polycystic kidney disease 1, 173900 (3) |
PKD1L1 |
Heterotaxy, visceral, 8, autosomal, 617205 (3) |
PKD2 |
Polycystic kidney disease 2, 613095 (3) |
PKP1 |
Ectodermal dysplasia/skin fragility syndrome, 604536 (3) |
PKP2 |
Arrhythmogenic right ventricular dysplasia 9, 609040 (3) |
PLAU |
Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) |
PLCB1 |
Epileptic encephalopathy, early infantile, 12, 613722 (3) |
PLCE1 |
Nephrotic syndrome, type 3, 610725 (3) |
PLCG2 |
Familial cold autoinflammatory syndrome 3, 614468 (3) Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3) |
PLG |
Dysplasminogenemia, 217090 (3) Plasminogen deficiency, type I, 217090 (3) |
PLOD1 |
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3) |
PNP |
Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) |
PNPLA1 |
Ichthyosis, congenital, autosomal recessive 10, 615024 (3) |
PNPLA2 |
Neutral lipid storage disease with myopathy, 610717 (3) |
POGZ |
White-Sutton syndrome, 616364 (3) |
POLG |
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3) |
POMT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3) |
POMT2 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) |
PON2 |
{Coronary artery disease, susceptibility to} (3) |
POR |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) |
POU3F4 |
Deafness, X-linked 2, 304400 (3) |
POU6F2 |
{Wilms tumor susceptibility-5}, 601583 (3) |
PPARG |
Carotid intimal medial thickness 1, 609338 (3) Lipodystrophy, familial partial, type 3, 604367 (3) Insulin resistance, severe, digenic, 604367 (3) Obesity, severe, 601665 (3) [Obesity, resistance to] (3) {Diabetes, type 2}, 125853 (3) |
PPP1R3A |
Insulin resistance, severe, digenic, 125853 (3) |
PRKCG |
Spinocerebellar ataxia 14, 605361 (3) |
PRKCH |
{Cerebral infarction, susceptibility to}, 601367 (3) |
PRKDC |
Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3) |
PRKRA |
Dystonia 16, 612067 (3) |
PRMT7 |
Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3) |
PROC |
Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3) Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) |
PRODH |
Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3) |
PROKR2 |
Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3) |
PROP1 |
Pituitary hormone deficiency, combined, 2, 262600 (3) |
PROS1 |
Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3) Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) |
PRPH2 |
Choroidal dystrophy, central areolar 2, 613105 (3) Leber congenital amaurosis 18, 608133 (3) Macular dystrophy, patterned, 1, 169150 (3) Macular dystrophy, vitelliform, 3, 608161 (3) Retinitis pigmentosa 7 and digenic form, 608133 (3) Retinitis punctata albescens, 136880 (3) |
PRRT2 |
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3) |
PRSS1 |
Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1) |
PRSS12 |
Mental retardation, autosomal recessive 1, 249500 (3) |
PSMB8 |
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3) |
PSMB9 |
?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3) |
PSMC3IP |
Ovarian dysgenesis 3, 614324 (3) |
PSPH |
Phosphoserine phosphatase deficiency, 614023 (3) |
PTCH1 |
Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3) |
PTF1A |
Pancreatic agenesis 2, 615935 (3) Pancreatic and cerebellar agenesis, 609069 (3) |
PTGDR |
{Asthma, susceptibility to, 1}, 607277 (3) |
PTGER2 |
{Asthma, aspirin-induced, susceptibility to}, 208550 (3) |
PTPN1 |
{Insulin resistance, susceptibility to}, 125853 (3) |
PTPN14 |
Choanal atresia and lymphedema, 613611 (3) |
PTPRF |
?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3) |
PTPRJ |
Colon cancer, somatic, 114500 (3) |
PTPRO |
Nephrotic syndrome, type 6, 614196 (3) |
PTPRQ |
Deafness, autosomal dominant 73, 617663 (3) Deafness, autosomal recessive 84A, 613391 (3) |
PXDN |
Anterior segment dysgenesis 7, with sclerocornea, 269400 (3) |
RAB23 |
Carpenter syndrome, 201000 (3) |
RAB3GAP1 |
Warburg micro syndrome 1, 600118 (3) |
RAD21 |
Cornelia de Lange syndrome 4, 614701 (3) ?Mungan syndrome, 611376 (3) |
RAD54B |
Colon cancer, somatic, 114500 (3) Lymphoma, non-Hodgkin, somatic, 605027 (3) |
RAI1 |
Smith-Magenis syndrome, 182290 (3) |
RANBP2 |
{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3) |
RAPSN |
Fetal akinesia deformation sequence, 208150 (3) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3) |
RARS2 |
Pontocerebellar hypoplasia, type 6, 611523 (3) |
RAX |
Microphthalmia, isolated 3, 611038 (3) |
RB1CC1 |
Breast cancer, somatic, 114480 (3) |
RBM15 |
Megakaryoblastic leukemia, acute (2) |
RBP3 |
?Retinitis pigmentosa 66, 615233 (3) |
RELN |
Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3) |
REN |
Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) Renal tubular dysgenesis, 267430 (3) [Hyperproreninemia] (3) |
RFXANK |
MHC class II deficiency, complementation group B, 209920 (3) |
RGS9BP |
Bradyopsia, 608415 (3) |
RHBDF2 |
Tylosis with esophageal cancer, 148500 (3) |
RHCE |
Rh-null disease, amorph type, 617970 (3) [Blood group, Rhesus] (3) |
RIN2 |
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) |
RIPK4 |
CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3) |
RNASET2 |
Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) |
RNF139 |
Renal cell carcinoma, 144700 (3) |
RNF168 |
RIDDLE syndrome, 611943 (3) |
RNF213 |
{Moyamoya disease 2, susceptibility to}, 607151 (3) |
ROBO3 |
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3) |
ROR2 |
Brachydactyly, type B1, 113000 (3) Robinow syndrome, autosomal recessive, 268310 (3) |
RP1 |
Retinitis pigmentosa 1, 180100 (3) |
RP1L1 |
Occult macular dystrophy, 613587 (3) |
RPE65 |
Leber congenital amaurosis 2, 204100 (3) Retinitis pigmentosa 20, 613794 (3) |
RPGRIP1 |
Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3) |
RPGRIP1L |
COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3) |
RPL11 |
Diamond-Blackfan anemia 7, 612562 (3) |
RYR1 |
Central core disease, 117000 (3) {Malignant hyperthermia susceptibility 1}, 145600 (3) King-Denborough syndrome, 145600 (3) Minicore myopathy with external ophthalmoplegia, 255320 (3) Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3) |
RYR2 |
Arrhythmogenic right ventricular dysplasia 2, 600996 (3) Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3) |
SACS |
Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) |
SAG |
Oguchi disease-1, 258100 (3) Retinitis pigmentosa 47, 613758 (3) |
SALL4 |
IVIC syndrome, 147750 (3) Duane-radial ray syndrome, 607323 (3) |
SCARB1 |
[High density lipoprotein cholesterol level QTL6], 610762 (3) |
SCARF2 |
Van den Ende-Gupta syndrome, 600920 (3) |
SCN10A |
Episodic pain syndrome, familial, 2, 615551 (3) |
SCN1B |
Atrial fibrillation, familial, 13, 615377 (3) Brugada syndrome 5, 612838 (3) Cardiac conduction defect, nonspecific, 612838 (3) Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3) Epileptic encephalopathy, early infantile, 52, 617350 (3) |
SCN3A |
Epilepsy, familial focal, with variable foci 4, 617935 (3) Epileptic encephalopathy, early infantile, 62, 617938 (3) |
SCN5A |
Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3) |
SCN8A |
Cognitive impairment with or without cerebellar ataxia, 614306 (3) Epileptic encephalopathy, early infantile, 13, 614558 (3) ?Myoclonus, familial, 2, 618364 (3) Seizures, benign familial infantile, 5, 617080 (3) |
SCN9A |
Febrile seizures, familial, 3B, 613863 (3) HSAN2D, autosomal recessive, 243000 (3) Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3) Erythermalgia, primary, 133020 (3) Insensitivity to pain, congenital, 243000 (3) Paroxysmal extreme pain disorder, 167400 (3) Small fiber neuropathy, 133020 (3) {Dravet syndrome, modifier of}, 607208 (3) |
SCNN1G |
Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) Liddle syndrome 2, 618114 (3) Pseudohypoaldosteronism, type I, 264350 (3) |
SCO1 |
Mitochondrial complex IV deficiency, 220110 (3) |
SDC3 |
{Obesity, association with}, 601665 (3) |
SDCCAG8 |
Bardet-Biedl syndrome 16, 615993 (3) Senior-Loken syndrome 7, 613615 (3) |
SDHA |
Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3) |
SDHD |
Mitochondrial complex II deficiency, 252011 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 1, with or without deafness, 168000 (3) Pheochromocytoma, 171300 (3) |
SEC23A |
Craniolenticulosutural dysplasia, 607812 (3) |
SEC23B |
Dyserythropoietic anemia, congenital, type II, 224100 (3) ?Cowden syndrome 7, 616858 (3) |
SEMA3E |
?CHARGE syndrome, 214800 (3) |
SEPT12 |
Spermatogenic failure 10, 614822 (3) |
SEPT9 |
Amyotrophy, hereditary neuralgic, 162100 (3) Leukemia, acute myeloid, therapy-related (1) Ovarian carcinoma (1) |
SERPINA1 |
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) Emphysema due to AAT deficiency, 613490 (3) Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) |
SERPINA3 |
Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3) |
SERPINB6 |
?Deafness, autosomal recessive 91, 613453 (3) |
SERPINC1 |
Thrombophilia due to antithrombin III deficiency, 613118 (3) |
SERPINH1 |
{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) Osteogenesis imperfecta, type X, 613848 (3) |
SETBP1 |
Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3) |
SETX |
Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) |
SGCG |
Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3) |
SGSH |
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3) |
SH3PXD2B |
Frank-ter Haar syndrome, 249420 (3) |
SHANK3 |
{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3) |
SHROOM4 |
Stocco dos Santos X-linked mental retardation syndrome, 300434 (3) |
SI |
Sucrase-isomaltase deficiency, congenital, 222900 (3) |
SIAE |
{Autoimmune disease, susceptibility to, 6}, 613551 (3) |
SIGMAR1 |
?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3) |
SIL1 |
Marinesco-Sjogren syndrome, 248800 (3) |
SIM1 |
Obesity, severe, 601665 (3) |
SIX3 |
Holoprosencephaly 2, 157170 (3) Schizencephaly, 269160 (3) |
SIX5 |
Branchiootorenal syndrome 2, 610896 (3) |
SIX6 |
Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3) |
SKIV2L |
Trichohepatoenteric syndrome 2, 614602 (3) |
SLC11A2 |
Anemia, hypochromic microcytic, with iron overload 1, 206100 (3) |
SLC12A1 |
Bartter syndrome, type 1, 601678 (3) |
SLC12A3 |
Gitelman syndrome, 263800 (3) |
SLC16A12 |
Cataract 47, juvenile, with microcornea, 612018 (3) |
SLC17A3 |
{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3) |
SLC20A2 |
Basal ganglia calcification, idiopathic, 1, 213600 (3) |
SLC22A4 |
{Rheumatoid arthritis, susceptibility to}, 180300 (3) |
SLC22A5 |
Carnitine deficiency, systemic primary, 212140 (3) |
SLC24A1 |
Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3) |
SLC25A13 |
Citrullinemia, adult-onset type II, 603471 (3) Citrullinemia, type II, neonatal-onset, 605814 (3) |
SLC25A15 |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) |
SLC25A19 |
Microcephaly, Amish type, 607196 (3) Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3) |
SLC25A22 |
Epileptic encephalopathy, early infantile, 3, 609304 (3) |
SLC25A38 |
Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3) |
SLC26A1 |
?Nephrolithiasis, calcium oxalate, 167030 (3) |
SLC26A3 |
Diarrhea 1, secretory chloride, congenital, 214700 (3) |
SLC29A3 |
Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) |
SLC2A2 |
Fanconi-Bickel syndrome, 227810 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
SLC2A9 |
Hypouricemia, renal, 2, 612076 (3) {Uric acid concentration, serum, QTL 2}, 612076 (3) |
SLC30A8 |
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) |
SLC35C1 |
Congenital disorder of glycosylation, type IIc, 266265 (3) |
SLC37A4 |
Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3) |
SLC39A13 |
Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3) |
SLC39A4 |
Acrodermatitis enteropathica, 201100 (3) |
SLC3A1 |
Cystinuria, 220100 (3) |
SLC45A2 |
Albinism, oculocutaneous, type IV, 606574 (3) [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3) |
SLC4A11 |
Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3) |
SLC4A4 |
Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) |
SLC52A1 |
Riboflavin deficiency, 615026 (3) |
SLC5A7 |
Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3) Neuronopathy, distal hereditary motor, type VIIA, 158580 (3) |
SLC6A19 |
Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3) |
SLC6A2 |
?Orthostatic intolerance, 604715 (3) |
SLC6A3 |
{Nicotine dependence, protection against}, 188890 (3) Parkinsonism-dystonia, infantile, 1, 613135 (3) |
SLC6A5 |
Hyperekplexia 3, 614618 (3) |
SLC7A7 |
Lysinuric protein intolerance, 222700 (3) |
SLC7A9 |
Cystinuria, 220100 (3) |
SLC9A9 |
{?Autism susceptibility 16}, 613410 (3) |
SLCO1B1 |
Hyperbilirubinemia, Rotor type, digenic, 237450 (3) |
SLCO1B3 |
Hyperbilirubinemia, Rotor type, digenic, 237450 (3) |
SLCO2A1 |
Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3) |
SLX4 |
Fanconi anemia, complementation group P, 613951 (3) |
SMAD3 |
Loeys-Dietz syndrome 3, 613795 (3) |
SMAD7 |
{Colorectal cancer, susceptibility to, 3}, 612229 (3) |
SMARCA2 |
Nicolaides-Baraitser syndrome, 601358 (3) |
SMARCA4 |
Coffin-Siris syndrome 4, 614609 (3) {Rhabdoid tumor predisposition syndrome 2}, 613325 (3) |
SMARCAD1 |
Adermatoglyphia, 136000 (3) Basan syndrome, 129200 (3) Huriez syndrome, 181600 (3) |
SMOC2 |
Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3) |
SMPD1 |
Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3) |
SNRNP200 |
Retinitis pigmentosa 33, 610359 (3) |
SOD3 |
[Superoxide dismutase, elevated extracellular] (3) |
SOHLH1 |
Ovarian dysgenesis 5, 617690 (3) Spermatogenic failure 32, 618115 (3) |
SP110 |
Hepatic venoocclusive disease with immunodeficiency, 235550 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) |
SPATA16 |
?Spermatogenic failure 6, 102530 (3) |
SPATA7 |
Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3) |
SPECC1L |
Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3) |
SPG11 |
Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3) |
SPINK5 |
Netherton syndrome, 256500 (3) |
SPTA1 |
Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3) |
SPTAN1 |
Epileptic encephalopathy, early infantile, 5, 613477 (3) |
SPTB |
Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3) Elliptocytosis-3, 617948 (3) Spherocytosis, type 2, 616649 (3) |
SPTBN2 |
Spinocerebellar ataxia 5, 600224 (3) Spinocerebellar ataxia, autosomal recessive 14, 615386 (3) |
SRD5A3 |
Congenital disorder of glycosylation, type Iq, 612379 (3) Kahrizi syndrome, 612713 (3) |
SRP72 |
Bone marrow failure syndrome 1, 614675 (3) |
ST14 |
Ichthyosis, congenital, autosomal recessive 11, 602400 (3) |
STAT5B |
Growth hormone insensitivity with immunodeficiency, 245590 (3) Leukemia, acute promyelocytic, somatic, 102578 (3) |
STEAP3 |
?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3) |
STIL |
Microcephaly 7, primary, autosomal recessive, 612703 (3) |
STIM1 |
Immunodeficiency 10, 612783 (3) Myopathy, tubular aggregate, 1 160565 (3) Stormorken syndrome, 185070 (3) |
STRA6 |
Microphthalmia, isolated, with coloboma 8, 601186 (3) Microphthalmia, syndromic 9, 601186 (3) |
STRC |
Deafness, autosomal recessive 16, 603720 (3) |
STX16 |
Pseudohypoparathyroidism, type IB, 603233 (3) |
SUFU |
Basal cell nevus syndrome, 109400 (3) {Meningioma, familial, susceptibility to}, 607174 (3) Joubert syndrome 32, 617757 (3) Medulloblastoma, desmoplastic, 155255 (3) |
SUMO4 |
{Diabetes mellitus, insulin-dependent, 5}, 600320 (3) |
SURF1 |
Charcot-Marie-Tooth disease, type 4K, 616684 (3) Leigh syndrome, due to COX IV deficiency, 256000 (3) |
SYNE1 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3) |
SYNE2 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3) |
SYT2 |
Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3) |
T |
{Neural tube defects, susceptibility to}, 182940 (3) Sacral agenesis with vertebral anomalies, 615709 (3) |
TAB2 |
Congenital heart defects, nonsyndromic, 2, 614980 (3) |
TAC3 |
Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) |
TAF2 |
Mental retardation, autosomal recessive 40, 615599 (3) |
TAL1 |
Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) |
TAP2 |
Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) |
TAPBP |
Bare lymphocyte syndrome, type I, 604571 (3) |
TAS2R16 |
[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3) |
TBC1D4 |
{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) |
TBX1 |
Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3) |
TBX15 |
Cousin syndrome, 260660 (3) |
TBX2 |
Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3) |
TBX20 |
Atrial septal defect 4, 611363 (3) |
TBX4 |
Ischiocoxopodopatellar syndrome, 147891 (3) |
TBXAS1 |
Ghosal hematodiaphyseal syndrome, 231095 (3) ?Thromboxane synthase deficiency, 614158 (1) |
TCN2 |
Transcobalamin II deficiency, 275350 (3) |
TDRD7 |
Cataract 36, 613887 (3) |
TECTA |
Deafness, autosomal dominant 8/12, 601543 (3) Deafness, autosomal recessive 21, 603629 (3) |
TEK |
Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3) |
TENM4 |
Essential tremor, hereditary, 5, 616736 (3) |
TERT |
{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3) |
TEX14 |
?Spermatogenic failure 23, 617707 (3) |
TF |
Atransferrinemia, 209300 (3) |
TFRC |
Immunodeficiency 46, 616740 (3) |
TG |
Thyroid dyshormonogenesis 3, 274700 (3) {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) |
TGFBR2 |
Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3) Loeys-Dietz syndrome 2, 610168 (3) Esophageal cancer, somatic, 133239 (3) |
TGIF1 |
Holoprosencephaly 4, 142946 (3) |
TGM1 |
Ichthyosis, congenital, autosomal recessive 1, 242300 (3) |
TGM6 |
Spinocerebellar ataxia 35, 613908 (3) |
THBD |
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) Thrombophilia due to thrombomodulin defect, 614486 (3) |
THBS2 |
{Lumbar disc herniation, susceptibility to}, 603932 (3) |
TICAM1 |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3) |
TIMP3 |
Sorsby fundus dystrophy, 136900 (3) |
TJP2 |
Cholestasis, progressive familial intrahepatic 4, 615878 (3) Hypercholanemia, familial, 607748 (3) |
TLR1 |
{Leprosy, protection against}, 613223 (3) {Leprosy, susceptibility to, 5}, 613223 (3) |
TLR5 |
{Legionnaire disease, susceptibility to}, 608556 (3) {Melioidosis, susceptibility to}, 615557 (3) {Systemic lupus erythematosus, resistance to}, 601744 (3) {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3) |
TMC6 |
Epidermodysplasia verruciformis, 226400 (3) |
TMEM173 |
STING-associated vasculopathy, infantile-onset, 615934 (3) |
TMEM216 |
Joubert syndrome 2, 608091 (3) Meckel syndrome 2, 603194 (3) |
TMPRSS15 |
Enterokinase deficiency, 226200 (3) |
TMPRSS3 |
Deafness, autosomal recessive 8/10, 601072 (3) |
TMPRSS6 |
Iron-refractory iron deficiency anemia, 206200 (3) |
TNC |
Deafness, autosomal dominant 56, 615629 (3) |
TNFRSF10B |
Squamous cell carcinoma, head and neck, 275355 (3) |
TNFRSF11A |
{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3) |
TNFRSF4 |
?Immunodeficiency 16, 615593 (3) |
TNFSF11 |
Osteopetrosis, autosomal recessive 2, 259710 (3) |
TNNT2 |
Cardiomyopathy, dilated, 1D, 601494 (3) Cardiomyopathy, familial restrictive, 3, 612422 (3) Cardiomyopathy, hypertrophic, 2, 115195 (3) Left ventricular noncompaction 6, 601494 (3) |
TNNT3 |
Arthrogryposis, distal, type 2B, 601680 (3) |
TNXB |
Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3) |
TOPORS |
Retinitis pigmentosa 31, 609923 (3) |
TP53 |
{Glioma susceptibility 1}, 137800 (3) Bone marrow failure syndrome 5, 618165 (3) Breast cancer, somatic, 114480 (3) Hepatocellular carcinoma, somatic, 114550 (3) {Osteosarcoma}, 259500 (3) Li-Fraumeni syndrome, 151623 (3) Nasopharyngeal carcinoma, somatic, 607107 (3) Pancreatic cancer, somatic 260350 (3) {Adrenocortical carcinoma, pediatric}, 202300 (3) {Basal cell carcinoma 7}, 614740 (3) {Choroid plexus papilloma}, 260500 (3) {Colorectal cancer}, 114500 (3) |
TP53RK |
Galloway-Mowat syndrome 4, 617730 (3) |
TPCN2 |
[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) |
TPH2 |
{Unipolar depression, susceptibility to}, 608516 (3) {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3) |
TPMT |
{Thiopurines, poor metabolism of, 1}, 610460 (3) |
TPO |
Thyroid dyshormonogenesis 2A, 274500 (3) |
TPP1 |
Ceroid lipofuscinosis, neuronal, 2, 204500 (3) Spinocerebellar ataxia, autosomal recessive 7, 609270 (3) |
TRDN |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) |
TREX1 |
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) Chilblain lupus, 610448 (3) {Systemic lupus erythematosus, susceptibility to}, 152700 (3) Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3) |
TRIO |
Mental retardation, autosomal dominant 44, 617061 (3) |
TRIOBP |
Deafness, autosomal recessive 28, 609823 (3) |
TRIP11 |
Achondrogenesis, type IA, 200600 (3) Osteochondrodysplasia, 184260 (3) |
TRIP12 |
Mental retardation, autosomal dominant 49, 617752 (3) |
TRPA1 |
?Episodic pain syndrome, familial, 1, 615040 (3) |
TRPM1 |
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) |
TRPM6 |
Hypomagnesemia 1, intestinal, 602014 (3) |
TRPM7 |
{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3) |
TRPV3 |
Olmsted syndrome, 614594 (3) ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3) |
TRPV4 |
Brachyolmia type 3, 113500 (3) Hereditary motor and sensory neuropathy, type IIc, 606071 (3) Digital arthropathy-brachydactyly, familial, 606835 (3) Metatropic dysplasia, 156530 (3) Parastremmatic dwarfism, 168400 (3) ?Avascular necrosis of femoral head, primary, 2, 617383 (3) SED, Maroteaux type, 184095 (3) Scapuloperoneal spinal muscular atrophy, 181405 (3) Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) [Sodium serum level QTL 1], 613508 (3) |
TSEN34 |
?Pontocerebellar hypoplasia type 2C, 612390 (3) |
TSEN54 |
Pontocerebellar hypoplasia type 2A, 277470 (3) Pontocerebellar hypoplasia type 4, 225753 (3) ?Pontocerebellar hypoplasia type 5, 610204 (3) |
TSFM |
Combined oxidative phosphorylation deficiency 3, 610505 (3) |
TSHR |
Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3) |
TSHZ1 |
Aural atresia, congenital, 607842 (3) |
TSPYL1 |
Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) |
TTBK2 |
Spinocerebellar ataxia 11, 604432 (3) |
TTC37 |
Trichohepatoenteric syndrome 1, 222470 (3) |
TTI2 |
Mental retardation, autosomal recessive 39, 615541 (3) |
TTN |
Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3) |
TUBA8 |
Cortical dysplasia, complex, with other brain malformations 8, 613180 (3) |
TUBB1 |
Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3) |
TULP1 |
Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3) |
TYK2 |
Immunodeficiency 35, 611521 (3) |
UBR1 |
Johanson-Blizzard syndrome, 243800 (3) |
UCP2 |
{Obesity, susceptibility to, BMIQ4}, 607447 (3) |
UCP3 |
{Obesity, severe, and type II diabetes}, 601665 (3) |
UMOD |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) Hyperuricemic nephropathy, familial juvenile 1, 162000 (3) Medullary cystic kidney disease 2, 603860 (3) |
UNC13D |
Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) |
UPB1 |
Beta-ureidopropionase deficiency, 613161 (3) |
UQCRB |
Mitochondrial complex III deficiency, nuclear type 3, 615158 (3) |
USH1C |
Deafness, autosomal recessive 18A, 602092 (3) Usher syndrome, type 1C, 276904 (3) |
USH2A |
Retinitis pigmentosa 39, 613809 (3) Usher syndrome, type 2A, 276901 (3) |
UVSSA |
UV-sensitive syndrome 3, 614640 (3) |
VANGL1 |
Caudal regression syndrome, 600145 (3) {Neural tube defects, susceptibility to}, 182940 (3) |
VCAN |
Wagner syndrome 1, 143200 (3) |
VCL |
Cardiomyopathy, dilated, 1W, 611407 (3) Cardiomyopathy, hypertrophic, 15, 613255 (3) |
VDR |
?Osteoporosis, involutional, 166710 (1) Rickets, vitamin D-resistant, type IIA, 277440 (3) |
VPS13A |
Choreoacanthocytosis, 200150 (3) |
VPS13B |
Cohen syndrome, 216550 (3) |
VSX1 |
Keratoconus 1, 148300 (3) ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3) |
VWF |
von Willebrand disease, type 1, 193400 (3) von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) von Willibrand disease, type 3, 277480 (3) |
WAS |
Neutropenia, severe congenital, X-linked, 300299 (3) Thrombocytopenia, X-linked, 313900 (3) Thrombocytopenia, X-linked, intermittent, 313900 (3) Wiskott-Aldrich syndrome, 301000 (3) |
WDR35 |
Cranioectodermal dysplasia 2, 613610 (3) Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) |
WDR4 |
Galloway-Mowat syndrome 6, 618347 (3) Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3) |
WDR45B |
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3) |
WDR62 |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) |
WDR72 |
Amelogenesis imperfecta, type IIA3, 613211 (3) |
WDR81 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3) |
WFS1 |
Deafness, autosomal dominant 6/14/38, 600965 (3) ?Cataract 41, 116400 (3) Wolfram syndrome 1, 222300 (3) Wolfram-like syndrome, autosomal dominant, 614296 (3) {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3) |
WISP3 |
Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3) |
WNK1 |
Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3) |
WNT7A |
Fuhrmann syndrome, 228930 (3) Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) |
WRAP53 |
Dyskeratosis congenita, autosomal recessive 3, 613988 (3) |
WT1 |
Frasier syndrome, 136680 (3) Denys-Drash syndrome, 194080 (3) Meacham syndrome, 608978 (3) Mesothelioma, somatic, 156240 (3) Nephrotic syndrome, type 4, 256370 (3) Wilms tumor, type 1, 194070 (3) |
WWC1 |
[Memory, enhanced, QTL], 615602 (3) |
XDH |
Xanthinuria, type I, 278300 (3) |
XPC |
Xeroderma pigmentosum, group C, 278720 (3) |
XRCC1 |
?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3) |
XRCC4 |
Short stature, microcephaly, and endocrine dysfunction, 616541 (3) |
XYLT2 |
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) Spondyloocular syndrome, 605822 (3) |
ZBTB18 |
Mental retardation, autosomal dominant 22, 612337 (3) |
ZEB1 |
Corneal dystrophy, Fuchs endothelial, 6, 613270 (3) Corneal dystrophy, posterior polymorphous, 3, 609141 (3) |
ZFHX3 |
Prostate cancer, somatic, 176807 (3) |
ZFHX4 |
?Ptosis, congenital, 178300 (2) |
ZFP57 |
Diabetes mellitus, transient neonatal, 1, 601410 (3) |
ZFPM2 |
Diaphragmatic hernia 3, 610187 (3) 46XY sex reversal 9, 616067 (3) Tetralogy of Fallot, 187500 (3) |
ZFYVE27 |
Spastic paraplegia 33, autosomal dominant, 610244 (3) |
ZMPSTE24 |
Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3) Restrictive dermopathy, lethal, 275210 (3) |
ZNF335 |
Microcephaly 10, primary, autosomal recessive, 615095 (3) |
ZNF365 |
{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) |
ZNF750 |
Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) |
Genes at Clinical Genomics Database
A4GALT, AARS2, ABCA1, ABCA12, ABCA3, ABCA4, ABCB1, ABCB11, ABCC11, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ACADS, ACADSB, ACAN, ACAT1, ACOX1, ACSF3, ACTN2, ADA, ADAM17, ADAM9, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADCK3, ADCY6, ADNP, ADRB2, AGL, AGRN, AICDA, AIP, AIPL1, AKAP9, AKR1C2, ALAD, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX5, ALOXE3, ALS2, ALS2CL, ALX4, AMACR, AMPD1, AMPD3, AMT, ANK1, ANK2, ANKH, ANKRD11, ANKRD26, ANO6, AP3B1, AP4B1, AP4E1, AP5Z1, APOB, APOE, AQP2, AQP3, ARFGEF2, ARHGEF10, ARID1A, ARL13B, ARSA, ARSB, ASAH1, ASCL1, ASL, ASPA, ASPM, ASXL1, ATF6, ATIC, ATL1, ATM, ATN1, ATP2A1, ATP6V0A4, ATP6V1B1, ATP7B, ATR, ATXN1, ATXN3, AXIN1, AXIN2, B4GALT7, BAAT, BAG3, BBS1, BBS12, BBS2, BBS4, BCAM, BCKDHB, BCL10, BCR, BDNF, BEST1, BFSP1, BICC1, BLK, BLM, BLNK, BLOC1S3, BMP1, BMP2, BMP4, BMPER, BMPR1A, BRAF, BRCA2, BRIP1, BSG, BSND, C1QA, C2, C3, C4B, C5, C7, C8B, CACNA1A, CACNA1C, CACNA1G, CACNA1S, CACNA2D4, CACNB2, CACNB4, CACNG2, CAMTA1, CAPN3, CARD14, CASP10, CASP8, CASQ2, CASR, CAT, CAV3, CBL, CBX2, CC2D1A, CC2D2A, CCDC14, CCDC40, CCDC8, CCDC88C, CD151, CD19, CD207, CD27, CD36, CD3E, CD44, CD81, CD96, CDAN1, CDC6, CDH15, CDH23, CDHR1, CDK5RAP2, CDKN1B, CDON, CDSN, CDT1, CEL, CENPJ, CEP152, CEP63, CERKL, CFB, CFH, CFHR3, CFHR4, CFTR, CHAT, CHD7, CHD8, CHRNA2, CHRNA4, CHRND, CHRNE, CHRNG, CHST3, CHSY1, CHUK, CIB2, CIDEC, CIITA, CLCN1, CLCNKB, CLN5, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COCH, COG4, COG5, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A2, COL25A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A1, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A2, COL9A3, COLEC11, COMT, COQ2, COQ4, CORIN, CORO1A, COX10, COX6B1, CPS1, CPT1A, CR1, CR2, CRBN, CRELD1, CRTAP, CRYAA, CRYBA1, CRYBB2, CRYGD, CRYM, CSF2RB, CSF3R, CSTA, CTC1, CTDP1, CTNNA3, CTNS, CTSK, CUBN, CUL7, CYB5A, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A2, CYP24A1, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP4F2, CYP4V2, D2HGDH, DAG1, DCAF17, DCDC2, DCLRE1C, DDOST, DDR2, DDX11, DDX58, DEAF1, DFNA5, DGCR2, DGUOK, DHCR7, DHODH, DIP2B, DLX3, DMGDH, DMPK, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAJC6, DNASE1, DNM1, DNM2, DNMT1, DNMT3A, DOCK6, DOCK8, DOK7, DPYD, DRD2, DSC2, DSC3, DSG1, DSG2, DSG4, DSP, DST, DUOX2, DYM, DYNC2H1, DYX1C1, EARS2, ECM1, EDAR, EDARADD, EDN3, EFHC1, EFTUD2, EGF, EGFR, EGLN1, EHMT1, EIF2AK3, EIF2B5, EIF4G1, ELN, ELOVL4, EMX2, ENG, ENO3, ENPP1, EP300, EPHA2, EPHX1, EPM2A, ERBB4, ERCC1, ERCC4, ESR1, ESRRB, ETFB, EVC, EVC2, EXOSC3, EXT1, EYA1, EYA4, EYS, F10, F5, FAH, FAM126A, FAM134B, FAM161A, FAM20A, FAM83H, FANCA, FANCD2, FANCE, FANCG, FANCI, FBN2, FBXO7, FCGR3A, FCN3, FECH, FGA, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FIG4, FLCN, FLNC, FLT4, FLVCR2, FMN2, FMO3, FN1, FOXC1, FOXN1, FRAS1, FREM1, FREM2, FSHB, FSHR, FTCD, FUS, FUT3, GAA, GABRG2, GAD1, GALC, GALNS, GATA2, GBE1, GCDH, GCM2, GCNT2, GDAP1, GDF3, GDF5, GFAP, GGCX, GHSR, GIF, GJA3, GJB2, GJB3, GJB4, GJC2, GLB1, GLDC, GLI2, GLI3, GLIS2, GLIS3, GLRX5, GLUD1, GNAS, GNPAT, GP1BA, GP6, GPC3, GPC6, GPI, GPIHBP1, GPR179, GPSM2, GPX4, GRIK2, GRIK4, GRIN2A, GRIN2B, GRM1, GRM6, GSN, GYPB, GYPC, GYS1, GYS2, H6PD, HABP2, HAL, HCN4, HDAC4, HEPACAM, HERC2, HES7, HEXA, HEXB, HGD, HIBCH, HK1, HLA-A, HLA-B, HMCN1, HMGCR, HNF1A, HNF1B, HNMT, HOGA1, HOXA13, HOXD13, HPS1, HPS3, HPS4, HPS6, HR, HRG, HSD17B4, HSPA9, HTR2A, HTRA1, HYLS1, IDUA, IFIH1, IFNAR2, IFNGR1, IFT80, IGF1R, IGFALS, IGHMBP2, IHH, IKBKAP, IL10RB, IL17RA, IL21, IL31RA, IL7R, ILDR1, IMPDH1, INF2, INSL3, INSR, IQCB1, IQSEC2, IRF4, IRF6, IRF7, IRF8, ITGA2B, ITGA3, ITGA7, ITGB4, ITM2B, ITPA, ITPR1, IYD, JAG1, JAK2, JPH2, JPH3, JUP, KANK1, KANSL1, KARS, KAT6B, KCNC3, KCNH2, KCNJ1, KCNJ11, KCNJ6, KCNK18, KCNQ1, KCNQ2, KCNQ4, KCTD7, KEL, KIAA0196, KIF1A, KIF1B, KIRREL3, KISS1, KL, KLF11, KLHL3, KLHL7, KRIT1, KRT1, KRT2, KRT3, KRT5, KRT6B, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB3, LAMC3, LARGE, LARS2, LCA5, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LFNG, LHCGR, LHX3, LHX4, LIFR, LIPC, LIPE, LIPI, LMAN1, LMF1, LMNB2, LMX1B, LOR, LOXHD1, LPA, LPIN1, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC6, LRRC8A, LRRK2, LRSAM1, LTBP2, MAK, MAN2B1, MANBA, MAP2K2, MAP3K1, MAPK8IP1, MASP2, MASTL, MAT1A, MATN3, MC1R, MC4R, MCEE, MCOLN1, MCPH1, MED17, MED25, MEFV, MEN1, MERTK, MET, MFRP, MKKS, MLC1, MLH3, MMAB, MMP14, MMP20, MMP9, MNX1, MOG, MPDZ, MR1, MRPL3, MSH3, MSR1, MSX1, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUC1, MUT, MVK, MYH11, MYH14, MYH2, MYH3, MYH6, MYH8, MYLK, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYOC, MYPN, NAGS, NAT2, NBAS, NBEAL2, NBN, NCF4, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NEB, NEUROG3, NFKB1, NFKBIA, NFU1, NGF, NIPA1, NKX2-6, NLRP1, NME8, NODAL, NOP56, NOTCH1, NOTCH2, NOTCH3, NPAT, NPC1, NPC1L1, NPHP1, NPHP3, NPHP4, NPPA, NR3C1, NR3C2, NRIP1, NRXN1, NSD1, NT5C3A, NTRK1, NUP155, NUP62, OCA2, OPN1SW, OPTN, ORAI1, OSMR, OTOA, OTOF, P2RY12, PANK2, PARK2, PAX2, PAX4, PCCA, PCNT, PDGFRA, PDHB, PDHX, PEPD, PER2, PER3, PEX10, PEX14, PEX16, PEX6, PFN1, PGM1, PHKG2, PHOX2B, PIEZO2, PIGN, PIGO, PIK3CA, PIK3CD, PIK3R1, PIP5K1C, PITPNM3, PITX1, PKD1, PKD2, PKHD1, PKP1, PKP2, PLAU, PLCB1, PLCE1, PLCG2, PLEC, PLG, PLOD1, PNP, PNPLA1, PNPLA2, POGZ, POLG, POMT1, POMT2, POR, POU3F4, POU6F2, PPARG, PPP1R3A, PRKAG3, PRKCG, PRKDC, PRKRA, PROC, PRODH, PROKR2, PROP1, PROS1, PRPH2, PRRT2, PRSS1, PRSS12, PSMB8, PSMC3IP, PSPH, PTCH1, PTF1A, PTPN14, PTPRF, PTPRO, PTPRQ, PXDN, RAB23, RAB3GAP1, RAD21, RAI1, RANBP2, RAPSN, RARS2, RAX, RB1CC1, RBP3, RELN, REN, RFXANK, RGS9BP, RHBDF2, RHCE, RIN2, RIPK4, RNASET2, RNF139, RNF168, RNF213, ROBO3, ROR2, RP1, RP1L1, RPE65, RPGRIP1, RPGRIP1L, RPL11, RXFP2, RYR1, RYR2, SACS, SAG, SALL4, SART3, SCARF2, SCN1B, SCN5A, SCN8A, SCN9A, SCNN1G, SCO1, SDCCAG8, SDHA, SDHD, SEC23A, SEC23B, SEMA3E, SEPN1, SEPT12, SEPT9, SERPINA1, SERPINB6, SERPINC1, SERPINF2, SERPINH1, SETBP1, SETX, SGCG, SGSH, SH3PXD2B, SHANK3, SHROOM4, SI, SIGMAR1, SIL1, SIX3, SIX5, SIX6, SKIV2L, SLC11A2, SLC12A1, SLC12A3, SLC16A12, SLC20A2, SLC22A5, SLC24A1, SLC25A13, SLC25A15, SLC25A19, SLC25A22, SLC25A38, SLC26A3, SLC29A3, SLC2A2, SLC2A9, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC41A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC5A7, SLC6A19, SLC6A2, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLX4, SMAD3, SMARCA2, SMARCA4, SMARCAD1, SMOC2, SMPD1, SNRNP200, SP110, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPTA1, SPTAN1, SPTB, SPTBN2, SRD5A3, SRP72, ST14, STAT5B, STEAP3, STIL, STIM1, STRA6, STRC, STX16, SUFU, SUGCT, SURF1, SYNE1, SYNE2, SYT2, T, TAB2, TAC3, TAF2, TAP2, TAPBP, TBC1D4, TBX1, TBX15, TBX20, TBX4, TBXAS1, TCN2, TDRD7, TECTA, TEK, TENM4, TERT, TF, TFRC, TG, TGFBR2, TGIF1, TGM1, TGM6, THBD, TICAM1, TIMP3, TJP2, TMC6, TMEM173, TMEM216, TMPRSS15, TMPRSS3, TMPRSS6, TNC, TNFRSF10B, TNFRSF11A, TNFRSF4, TNFSF11, TNNT2, TNNT3, TNXB, TOPORS, TP53, TPCN2, TPMT, TPO, TPP1, TRDN, TREX1, TRIOBP, TRIP11, TRPA1, TRPM1, TRPM6, TRPV3, TRPV4, TSEN34, TSEN54, TSFM, TSHR, TSHZ1, TSPYL1, TTBK2, TTC37, TTI2, TTN, TUBA8, TUBB1, TULP1, TYK2, UBR1, UMOD, UNC13D, UPB1, UPK3A, UQCRB, USH1C, USH2A, UVSSA, VANGL1, VCAN, VCL, VDR, VPS13A, VPS13B, VSX1, VSX2, VWF, WAS, WDR35, WDR62, WDR72, WDR81, WFS1, WISP3, WNK1, WNT7A, WRAP53, WRN, WT1, XDH, XPC, XRCC4, ZBTB18, ZEB1, ZFP57, ZFPM2, ZFYVE27, ZMPSTE24, ZNF335, ZNF750,A4GALT |
Blood group, P system |
AARS2 |
Leukoencephalopathy, progressive, with ovarian failure |
ABCA1 |
ABCA1 deficiency Tangier disease HDL deficiency, type 2 |
ABCA12 |
Ichthyosis, harlequin Ichthyosis, lamellar, type 2 |
ABCA3 |
Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease |
ABCA4 |
Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus |
ABCB1 |
Colchicine metabolism, association with |
ABCB11 |
Cholestasis, progressive familial intrahepatic 2 |
ABCC11 |
Apocrine gland secretion, variation in |
ABCC8 |
Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced |
ABCD4 |
Methylmalonic aciduria and homocystinuria, cblJ type |
ABCG2 |
Blood group, junior system |
ABCG5 |
Sitosterolemia |
ABCG8 |
Sitosterolemia |
ABHD12 |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
ACADS |
Acyl-CoA dehydrogenase, short-chain, deficiency of |
ACADSB |
2-methylbutyryl-CoA dehydrogenase deficiency |
ACAN |
Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis |
ACAT1 |
Alpha-methylacetoacetic aciduria |
ACOX1 |
Peroxisomal acyl-CoA oxidase deficiency |
ACSF3 |
Combined malonic and methylmalonic aciduria |
ACTN2 |
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction |
ADA |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
ADAM17 |
Inflammatory skin and bowel disease, neonatal 1 |
ADAM9 |
Cone-rod dystrophy 9 |
ADAMTS17 |
Weill-Marchesani-like syndrome |
ADAMTS2 |
Ehlers-Danlos syndrome, type VII |
ADAMTSL2 |
Geleophysic dysplasia 1 |
ADAMTSL4 |
Ectopia lentis, isolated, autosomal recessive |
ADAR |
Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome 6 |
ADCK3 |
Coenzyme Q10 deficiency Progressive cerebellar ataxia and atrophy Spinocerebellar ataxia 9 |
ADCY6 |
Lethal congenital contracture syndrome 8 |
ADNP |
Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28) |
ADRB2 |
Beta-2-adrenoreceptor agonist, reduced response to |
AGL |
Glycogen storage disease III |
AGRN |
Myasthenic syndrome, congenital 8 |
AICDA |
Immunodeficiency with hyper-IgM, type 2 |
AIP |
Pituitary adenoma, familial isolated |
AIPL1 |
Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile, AIPL1-related Cone-rod dystrophy, AIPL1-related |
AKAP9 |
Long QT syndrome 11 |
AKR1C2 |
46,XY sex reversal 8 |
ALAD |
Porphyria, acute hepatic |
ALDH5A1 |
Succinic semialdehyde dehydrogenase deficiency |
ALDH7A1 |
Epilepsy, pyridoxine-dependent |
ALG1 |
Congenital disorder of glycosylation, type Ik |
ALG12 |
Congenital disorder of glycosylation, type Ig |
ALG2 |
Congenital disorder of glycosylation, type Ii Myasthenic syndrome, congenital 14 |
ALG8 |
Congenital disorder of glycosylation, type Ih |
ALK |
Neuroblastoma, susceptibility to, 3 |
ALMS1 |
Alstrom syndrome |
ALOX5 |
Asthma, diminished response to antileukotriene treatment in |
ALOXE3 |
Ichthyosiform erythroderma, congenital, nonbullous, 1 |
ALS2 |
Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2 |
ALS2CL |
Schizophrenia |
ALX4 |
Parietal foramina 2 Frontonasal dysplasia 2 |
AMACR |
Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency |
AMPD1 |
Myoadenylate deaminase deficiency |
AMPD3 |
Erythrocytic AMP deaminase deficiency |
AMT |
Glycine encephalopathy |
ANK1 |
Spherocytosis, hereditary 1 |
ANK2 |
Long QT syndrome, 4 Cardiac arrhythmia, ankyrin-B-related |
ANKH |
Craniometaphyseal dysplasia Chondrocalcinosis 2 |
ANKRD11 |
KBG syndrome |
ANKRD26 |
Thrombocytopenia 2 |
ANO6 |
Scott syndrome |
AP3B1 |
Hermansky-Pudlak syndrome 2 |
AP4B1 |
Spastic paraplegia 47, autosomal recessive |
AP4E1 |
Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive |
AP5Z1 |
Spastic paraplegia 48, autosomal recessive |
APOB |
Hypobetalipoproteinemia, familial Hypercholesterolemia, familial |
APOE |
Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III) Lipoprotein glomerulopathy Sea-blue histiocyte disease |
AQP2 |
Diabetes insipidus, nephrogenic, autosomal |
AQP3 |
Blood group, GIL |
ARFGEF2 |
Heterotopia, periventricular, autosomal recessive |
ARHGEF10 |
Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy) |
ARID1A |
Mental retardation, autosomal dominant 14 Coffin-Siris syndrome 2 |
ARL13B |
Joubert syndrome 8 |
ARSA |
Metachromatic leukodystrophy |
ARSB |
Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
ASAH1 |
Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy |
ASCL1 |
Central hypoventilation syndrome, congenital (Haddad syndrome) |
ASL |
Argininosuccinic aciduria |
ASPA |
Aspartoacylase deficiency (Canavan disease) |
ASPM |
Microcephaly, primary autosomal recessive, 5 |
ASXL1 |
Bohring-Opitz syndrome |
ATF6 |
Achromatopsia 7 |
ATIC |
AICAR transformylase/IMP cyclohydrolase deficiency |
ATL1 |
Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant |
ATM |
Breast cancer, susceptibility to Ataxia-Telangiectasia |
ATN1 |
Dentatorubro-pallidoluysian atrophy |
ATP2A1 |
Brody myopathy |
ATP6V0A4 |
Renal tubular acidosis, distal, autosomal recessive |
ATP6V1B1 |
Renal tubular acidosis with deafness |
ATP7B |
Wilson disease |
ATR |
Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1 |
ATXN1 |
Spinocerebellar ataxia 1 |
ATXN3 |
Spinocerebellar ataxia 3 (Machado-Joseph disease) |
AXIN1 |
Caudal duplication anomaly |
AXIN2 |
Oligodontia-colorectal cancer syndrome |
B4GALT7 |
Ehlers-Danlos syndrome with short stature and limb anomalies |
BAAT |
Hypercholanemia, familial |
BAG3 |
Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6 |
BBS1 |
Bardet-Biedl syndrome 1 |
BBS12 |
Bardet-Biedl syndrome 12 |
BBS2 |
Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 |
BBS4 |
Bardet-Biedl syndrome 4 |
BCAM |
Blood group, Lutheran system Blood group, Auberger system Lutheran, null |
BCKDHB |
Maple syrup urine disease, type Ib |
BCL10 |
Immunodeficiency 37 |
BCR |
CML treatment, response to |
BDNF |
Central hypoventilation syndrome, congenital |
BEST1 |
Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma |
BFSP1 |
Cataract, cortical, juvenile-onset |
BICC1 |
Renal dysplasia, cystic, susceptibility to |
BLK |
Maturity-onset diabetes of the young, type 11 |
BLM |
Bloom syndrome |
BLNK |
Agammaglobulinemia 4 |
BLOC1S3 |
Hermansky-Pudlak syndrome 8 |
BMP1 |
Osteogenesis imperfecta, type XIII |
BMP2 |
Brachydactyly, type A2 |
BMP4 |
Microphthalmia, syndromic 6 Orofacial cleft 11 |
BMPER |
Diaphanospondylodysostosis |
BMPR1A |
Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal |
BRAF |
Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3 |
BRCA2 |
Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma |
BRIP1 |
Breast cancer Fanconi anemia, complementation group J |
BSG |
Blood group, OK |
BSND |
Bartter syndrome, type 4A Sensorineural deafness with mild renal dysfunction |
C1QA |
C1q deficiency |
C2 |
Complement component 2 deficiency |
C3 |
Complement component 3 deficiency, autosomal recessive Hemolytic uremic syndrome, atypical, susceptibility to, 5 |
C4B |
Complement component 4B deficiency |
C5 |
Eculizumab, poor response to Complement component 5 deficiency |
C7 |
Complement component 7 deficiency |
C8B |
Complement component 8 deficiency, type II |
CACNA1A |
Episodic ataxia, type 2 Migraine, familial hemiplegic 1 |
CACNA1C |
Brugada syndrome 3 Timothy syndrome |
CACNA1G |
Spinocerebellar ataxia 42 |
CACNA1S |
Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1 |
CACNA2D4 |
Retinal cone dystrophy 4 |
CACNB2 |
Brugada syndrome 4 |
CACNB4 |
Episodic ataxia, type 5 |
CACNG2 |
Mental retardation, autosomal dominant 10 |
CAMTA1 |
Cerebellar ataxia, nonprogressive, with mental retardation |
CAPN3 |
Muscular dystrophy, limb-girdle, type 2A Eosinophilic myositis |
CARD14 |
Psoriasis 2 |
CASP10 |
Autoimmune lymphoproliferative syndrome, type IIA |
CASP8 |
Caspase 8 defiency |
CASQ2 |
Ventricular tachycardia, catecholaminergic, polymorphic, 2 |
CASR |
Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal severe primary Hypoparathyroidism, familial isolated Hyperparathyroidism, familial primary |
CAT |
Acatalasemia |
CAV3 |
Cardiomyopathy, familial hypertrophic Long QT syndrome 9 Creatine phosphokinase, elevated serum |
CBL |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia, familial |
CBX2 |
46,XY sex reversal 5 |
CC2D1A |
Mental retardation, autosomal recessive 3 |
CC2D2A |
Joubert syndrome 9 Meckel syndrome 6 COACH syndrome |
CCDC14 |
Hypotonia, infantile, with psychomotor retardation |
CCDC40 |
Ciliary dyskinesia, primary, 15 |
CCDC8 |
Three M syndrome 3 |
CCDC88C |
Spinocerebellar ataxia 40 |
CD151 |
Raph blood group |
CD19 |
Immunodeficiency, common variable 3 |
CD207 |
Birbeck granule deficiency |
CD27 |
Lymphoproliferative syndrome 2 |
CD36 |
Platelet glycoprotein IV deficiency |
CD3E |
Immunodeficiency 18 |
CD44 |
Blood group, Indian |
CD81 |
Immunodeficiency, common variable, 6 |
CD96 |
C syndrome( Opitz Trigonocephaly syndrome) |
CDAN1 |
Anemia, dyserythropoietic congenital, type Ia |
CDC6 |
Meier-Gorlin syndrome 5 |
CDH15 |
Mental retardation, autosomal dominant 3 |
CDH23 |
Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic |
CDHR1 |
Cone-rod dystrophy 15 Retinitis pigmentosa 65 |
CDK5RAP2 |
Microcephaly, primary autosomal recessive, 3 |
CDKN1B |
Multiple endocrine neoplasia, type IV |
CDON |
Holoprosencephaly 11 |
CDSN |
Hypotrichosis 2 Peeling skin syndrome 1 |
CDT1 |
Meier-Gorlin syndrome 4 |
CEL |
Maturity-onset diabetes of the young, type 8 |
CENPJ |
Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6 |
CEP152 |
Seckel syndrome 5 Microcephaly 9, primary, autosomal recessive |
CEP63 |
Seckel syndrome 6 |
CERKL |
Retinitis pigmentosa 26 |
CFB |
Hemolytic uremic syndrome, atypical Complement factor B deficiency |
CFH |
Hemolytic uremic syndrome, atypical Complement factor H deficiency |
CFHR3 |
Hemolytic-uremic syndrome, atypical, susceptibility to |
CFHR4 |
Hemolytic-uremic syndrome, atypical, susceptibility to |
CFTR |
Cystic fibrosis |
CHAT |
Myasthenic syndrome, congenital 6, presynaptic |
CHD7 |
CHARGE syndrome Hypogonadotropic hypogonadism 5 with or without anosmia |
CHD8 |
Autism, susceptibility to 18 |
CHRNA2 |
Epilepsy, nocturnal frontal lobe, type 4 |
CHRNA4 |
Epilepsy, nocturnal frontal lobe, type 1 |
CHRND |
Myasthenic syndrome, congenital, fast channel Myasthenic syndrome,congenital, slow-channel Myasthenic syndrome, congenital, 3C |
CHRNE |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, fast-channel congenital Myasthenic syndrome, slow-channel congenital |
CHRNG |
Multiple pterygium syndrome Escobar syndrome |
CHST3 |
Spondyloepiphyseal dysplasia with congenital joint dislocations |
CHSY1 |
Temtamy preaxial brachydactyly syndrome |
CHUK |
Cocoon syndrome |
CIB2 |
Deafness, autosomal recessive 48 Usher syndrome type IJ |
CIDEC |
Lipodystrophy, familial partial, type 5 |
CIITA |
Bare lymphocyte syndrome, type II |
CLCN1 |
Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior |
CLCNKB |
Bartter syndrome, type 4, digenic Bartter syndrome, type 3 |
CLN5 |
Ceroid lipofuscinosis, neuronal, 5 |
CNGA1 |
Retinitis pigmentosa 49 |
CNGB1 |
Retinitis pigmentosa 45 |
CNGB3 |
Achromatopsia 3 Macular degeneration, juvenile |
CNNM2 |
Hypomagnesemia 6 ,renal |
CNTNAP2 |
Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1 |
COCH |
Deafness, autosomal dominant 9 |
COG4 |
Congenital disorder of glycosylation, type IIj |
COG5 |
Congenital disorder of glycosylation, type IIi |
COL10A1 |
Metaphyseal chondrodysplasia, Schmid type |
COL11A1 |
Stickler syndrome, type II Fibrochondrogenesis Marshall syndrome |
COL11A2 |
Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III |
COL12A1 |
Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2 |
COL17A1 |
Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type |
COL18A1 |
Knobloch syndrome 1 |
COL1A2 |
Ehlers-Danlos syndrome, cardiac valvular form |
COL25A1 |
Fibrosis of extraocular muscles, congenital 5 |
COL4A1 |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly |
COL4A2 |
Hemorrhage, intracerebral, susceptibility to |
COL4A4 |
Alport syndrome, autosomal recessive |
COL4A5 |
Alport syndrome, X-linked |
COL5A1 |
Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II |
COL6A1 |
Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
COL6A2 |
Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Myosclerosis, congenital Epilepsy, progressive myoclonic, autosomal recessive |
COL6A3 |
Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Dystonia 27 |
COL7A1 |
Epidermolysis bullosa dystrophica, autosomal dominant Epidermolysis bullosa dystrophica, autosomal recessive Epidermolysis bullosa dystrophica inversia Epidermolysis bullosa pruriginosa Nail disorder, nonsyndromic congenital, 8 Epidermolysis bullosa dystrophica, Bart type Epidermolysis bullosa, pretibial Transient bullous dermolysis of the newborn |
COL8A2 |
Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, Fuchs endothelial, 1 |
COL9A2 |
Stickler syndrome, Type V |
COL9A3 |
Epiphyseal dysplasia, multiple, 3 |
COLEC11 |
3MC syndrome 2 |
COMT |
Medication response, association with |
COQ2 |
Coenzyme Q10 deficiency 1 |
COQ4 |
Coenzyme Q10 deficiency 7 |
CORIN |
Preeclampsia/eclampsia 5 |
CORO1A |
Immunodeficiency 8 |
COX10 |
Mitochondrial complex IV deficiency Leigh syndrome |
COX6B1 |
Mitochondrial complex IV deficiency |
CPS1 |
Carbamoylphosphate synthetase I deficiency |
CPT1A |
Carnitine palmitoyltransferase deficiency I |
CR1 |
Blood group, Knops system |
CR2 |
Common variable immune deficiency, 7 |
CRBN |
Mental retardation, autosomal recessive 2 |
CRELD1 |
Atrioventricular septal defect, partial, with or without heterotaxy |
CRTAP |
Osteogenesis imperfecta, type VII |
CRYAA |
Cataract 9, multiple types |
CRYBA1 |
Cataract 10, multiple types |
CRYBB2 |
Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2 |
CRYGD |
Cataract 4, multiple types |
CRYM |
Deafness, autosomal dominant 40 |
CSF2RB |
Surfactant metabolism dysfunction, pulmonary, 5 |
CSF3R |
Neutrophilia, hereditary |
CSTA |
Peeling skin syndrome 4 |
CTC1 |
Cerebroretinal microangiopathy with calcifications and cysts |
CTDP1 |
Congenital cataracts, facial dysmorphism, and neuropathy |
CTNNA3 |
Arrhythmogenic right ventricular dysplasia, familial, 13 |
CTNS |
Cystinosis |
CTSK |
Pycnodysostosis |
CUBN |
Megaloblastic anemia-1, Finnish type |
CUL7 |
Three M syndrome 1 Yakut short stature syndrome |
CYB5A |
46, XY disorder of sex development Methemoglobinemia, type IV |
CYP11B1 |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Glucocorticoid-remediable aldosteronism |
CYP11B2 |
Glucocorticoid-remediable aldosteronism Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency |
CYP17A1 |
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency |
CYP19A1 |
Aromatase deficiency |
CYP1A2 |
CYP1A2-related drug metabolism |
CYP1B1 |
Glaucoma, primary open angle, adult-onset Peters anomaly Glaucoma 3A, primary congenital |
CYP21A2 |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
CYP24A1 |
1,25(OH)(2)D-24-hydroxylase deficiency |
CYP27A1 |
Cerebrotendinous xanthomatosis |
CYP2A6 |
CYP2A6-related drug metabolism |
CYP2B6 |
Efavirenz, poor metabolism of |
CYP2D6 |
Drug metabolism, CYP2CD6-related |
CYP4F2 |
Warfarin metabolism |
CYP4V2 |
Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive |
D2HGDH |
D-2-hydroxyglutaric aciduria 1 |
DAG1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy, type C, 9 |
DCAF17 |
Woodhouse-Sakati syndrome |
DCDC2 |
Deafness, autosomal recessive 66 |
DCLRE1C |
Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation |
DDOST |
Congenital disorder of glycosylation, type Ir |
DDR2 |
Spondylometaepiphyseal dysplasia, short limb-hand type |
DDX11 |
Warsaw breakage syndrome |
DDX58 |
Singleton-Merten syndrome 2 |
DEAF1 |
Mental retardation, autosomal dominant 24 |
DFNA5 |
Deafness, autosomal dominant 5 |
DGCR2 |
Schizophrenia |
DGUOK |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
DHCR7 |
Smith-Lemli-Opitz syndrome |
DHODH |
Postaxial acrofacial dysostosis (Miller syndrome) |
DIP2B |
Mental retardation, FRA12A type |
DLX3 |
Trichodontoosseous syndrome Amelogenesis imperfecta, type IV |
DMGDH |
Dimethylglycine dehydrogenase deficiency |
DMPK |
Myotonic dystrophy 1 |
DNAAF1 |
Ciliary dyskinesia, primary, 13 |
DNAAF2 |
Ciliary dyskinesia, primary, 10 |
DNAH11 |
Ciliary dyskinesia, primary, 7 |
DNAH5 |
Ciliary dyskinesia, primary, 3, with or without situs inversus |
DNAJC6 |
Juvenile Parkinsonism, autosomal recessive |
DNASE1 |
Macular dystrophy, North Carolina type |
DNM1 |
Epileptic encephalopathy, early infantile 31 |
DNM2 |
Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth disease, axonal, type 2M Myopathy, centronuclear Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive |
DNMT1 |
Neuropathy, hereditary sensory, type IE Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
DNMT3A |
Tatton-Brown-Rahman syndrome |
DOCK6 |
Adams-Oliver syndrome 2 |
DOCK8 |
Hyper-IgE recurrent infection syndrome, autosomal recessive |
DOK7 |
Myasthenic syndrome, congenital 10 |
DPYD |
5-fluorouracil toxicity |
DRD2 |
Myoclonic dystonia |
DSC2 |
Arrhythmogenic right ventricular dysplasia, familial, 11 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
DSC3 |
Hypotrichosis and recurrent skin vesicles |
DSG1 |
Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome) |
DSG2 |
Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular dysplasia, familial, 10 |
DSG4 |
Hypotrichosis 6 |
DSP |
Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
DST |
Neuropathy, hereditary sensory and autonomic, type VI |
DUOX2 |
Thyroid dyshormonogenesis 6 |
DYM |
Dyggve-Melchior-Clausen disease Smith-McCort dysplasia 1 |
DYNC2H1 |
Short-rib thoracic dysplasia 3 with or without polydactyly |
DYX1C1 |
Ciliary dyskinesia, primary 25 |
EARS2 |
Combined oxidative phosphorylation deficiency 12 |
ECM1 |
Lipoid proteinosis |
EDAR |
Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Hair morphology 1 |
EDARADD |
Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive |
EDN3 |
Central hypoventilation syndrome, congenital Waardenburg syndrome, type 4B Hirschsprung disease, susceptibility to, 4 |
EFHC1 |
Epilepsy, myoclonic juvenile Epilepsy, juvenile absence, susceptibility to, 1 Epilepsy, severe intractable |
EFTUD2 |
Mandibulofacial dysostosis, Guion-Almeida type Esophageal atresia, syndromic |
EGF |
Hypomagnesemia 4, renal |
EGFR |
Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2 |
EGLN1 |
Erythrocytosis, familial, 3 |
EHMT1 |
Kleefstra syndrome |
EIF2AK3 |
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome |
EIF2B5 |
Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy |
EIF4G1 |
Parkinson disease 18 Macular dystrophy with central cone involvement |
ELN |
Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis |
ELOVL4 |
Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3 |
EMX2 |
Schizencephaly |
ENG |
Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis syndrome |
ENO3 |
Glycogen storage disease XIII |
ENPP1 |
Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1 |
EP300 |
Rubinstein-Taybi syndrome 2 |
EPHA2 |
Cataract 6, multiple types |
EPHX1 |
Hypercholanemia, familial |
EPM2A |
Epilepsy, progressive myoclonic 2A (Lafora) |
ERBB4 |
Amyotrophic lateral sclerosis 19 |
ERCC1 |
Cerebrooculofacioskeletal syndrome 4 |
ERCC4 |
Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F |
ESR1 |
Estrogen resistance |
ESRRB |
Deafness, autosomal recessive 35 |
ETFB |
Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II |
EVC |
Ellis-van Creveld syndrome Weyers acrofacial dysostosis |
EVC2 |
Ellis-van Creveld syndrome Weyers acrodental dysostosis |
EXOSC3 |
Pontocerebellar hypoplasia type 1B |
EXT1 |
Exostoses, multiple, type 1 |
EYA1 |
Branchiootic syndrome 1 Branchiootorenal syndrome 1 Otofaciocervical syndrome 1 |
EYA4 |
Cardiomyopathy, dilated, 1J |
EYS |
Retitinis pigmentosa 25 |
F10 |
Factor X deficiency |
F5 |
Thrombophilia due to activated protein C resistance Factor V deficiency |
FAH |
Tyrosinemia, type I |
FAM126A |
Leukodystrophy, hypomyelinating, 5 |
FAM134B |
Neuropathy, hereditary sensory and autonomic, type IIB |
FAM161A |
Retitinis pigmentosa 28 |
FAM20A |
Amelogenesis imperfecta, type IG (Enamel-renal syndrome) |
FAM83H |
Amelogenesis imperfecta, type 3 |
FANCA |
Fanconi anemia, complementation group A |
FANCD2 |
Fanconi anemia, complementation group D2 |
FANCE |
Fanconi anemia, complementation group E |
FANCG |
Fanconi anemia type G |
FANCI |
Fanconi anemia, complementation group I |
FBN2 |
Congenital contractural arachnodactyly (Beals syndrome) |
FBXO7 |
Parkinson disease 15, autosomal recessive |
FCGR3A |
Immunodeficiency 20 |
FCN3 |
Immunodeficiency due to Ficolin 3 deficiency |
FECH |
Protoporphyria, erythropoietic |
FGA |
Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital Familial visceral amyloidosis |
FGF23 |
Hypophosphatemic rickets, autosomal dominant Tumoral calcinosis, hyperphosphatemic |
FGF3 |
Deafness, congenital with inner ear agenesis, microtia, and microdontia |
FGFR1 |
Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 Jackson-Weiss syndrome Pfeiffer syndrome |
FGFR2 |
Lacrimoauriculodentodigital syndrome Jackson-Weiss syndrome Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome |
FGFR3 |
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Crouzon syndrome with acanthosis nigricans Lacrimoauriculodentodigital syndrome (AD) Muenke syndrome |
FIG4 |
Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome |
FLCN |
Birt-Hogg-Dube syndrome Pneumothorax, primary spontaneous |
FLNC |
Myopathy, distal, 4 Myopathy, myofibrillar, 5 |
FLT4 |
Lymphedema, hereditary I (Milory disease) |
FLVCR2 |
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome |
FMN2 |
Mental retardation, autosomal recessive, 47 |
FMO3 |
Trimethylaminuria |
FN1 |
Glomerulopathy with fibronectin deposits 2 |
FOXC1 |
Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1 |
FOXN1 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
FRAS1 |
Fraser syndrome |
FREM1 |
Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive |
FREM2 |
Fraser syndrome |
FSHB |
Hypogonadotropic hypogonadism 24 without anosmia |
FSHR |
Ovarian hyperstimulation syndrome Ovarian dysgenesis 1 |
FTCD |
Glutamate formiminotransferase deficiency |
FUS |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor |
FUT3 |
Blood group, Lewis |
GAA |
Glycogen storage disease II |
GABRG2 |
Dravet syndrome Generalized epilepsy with febrile seizures plus, type 3 Familial febrile seizures 8 Epilepsy, childhood absence, susceptibility to, 2 |
GAD1 |
Cerebral palsy, spastic quadriplegic, 1 |
GALC |
Krabbe disease |
GALNS |
Mucopolysaccharidosis IVA (Morquio syndrome A) |
GATA2 |
Acute myeloid leukemia, familial Immunodeficiency 21 Emberger syndrome Myelodysplastic syndrome Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia |
GBE1 |
Glycogen storage disease IV |
GCDH |
Glutaric aciduria, type I |
GCM2 |
Hypoparathyroidism, familial isolated |
GCNT2 |
Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype |
GDAP1 |
Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth disease, type 4A |
GDF3 |
Microphthalmia, isolated 7 Microphthalmia, isolated, with coloboma 6 Klippel-Feil syndrome 3, autosomal dominant Coloboma, ocular |
GDF5 |
Brachydactyly, type A2 Acromesomelic dysplasia, Hunter-Thompson type Fibular hypoplasia and complex brachydactyly Multiple synostoses syndrome 2 Chondrodysplasia, Grebe type Symphalangism, proximal 1B Brachydactyly, type A1 Brachydactyly, type A1, C Brachydactyly, type C |
GFAP |
Alexander disease |
GGCX |
Vitamin K-dependent clotting factors, combined deficiency of, 1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
GHSR |
Short stature |
GIF |
Intrinsic factor deficiency |
GJA3 |
Cataract 14, multiple types |
GJB2 |
Deafness, autosomal recessive 1A Deafness, digenic Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3A Bart-Pumphrey syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Keratitis-icthyosis-deafness syndrome |
GJB3 |
Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness digenic |
GJB4 |
Erythrokeratodermia variabilis et progressiva Erythrokeratodermia variabilis with erythema gyratum repens |
GJC2 |
Lymphedema, hereditary, IC Spastic paraplegia 44, autosomal recessive Leukodystrophy, hypomyelinating, 2 |
GLB1 |
Mucopolysaccharidosis type IVB (Morquio syndrome B) GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III |
GLDC |
Glycine encephalopathy |
GLI2 |
Culler-Jones syndrome |
GLI3 |
Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B |
GLIS2 |
Nephronophthisis 7 |
GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism |
GLRX5 |
Anemia, sideroblastic 3, pyridoxine-refractory |
GLUD1 |
Hyperinsulinemic hypoglycemia, familial Hyperammonemia-hyperinsulinism |
GNAS |
Pseudohypoparathyroidism, type IA Pseudohypoparathyroidism, type IB Pseudohypoparathyroidism, type IC Progressive osseous heteroplasia McCune-Albright syndrome |
GNPAT |
Rhizomelic chondrodysplasia punctata, rhizomelic, type 2 |
GP1BA |
Bernard-Soulier syndrome, type A2 Bernard-Soulier syndrome, type A1 Pseudo-von Willebrand disease |
GP6 |
Bleeding disorder, platelet-type, 11 |
GPC3 |
Simpson-Golabi-Behmel syndrome, type 1 |
GPC6 |
Omodysplasia 1 |
GPI |
Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency |
GPIHBP1 |
Hyperlipoproteinemia, type ID |
GPR179 |
Night blindness, congenital stationary, type 1E |
GPSM2 |
Chudley-McCullough syndrome Deafness, autosomal recessive 82 |
GPX4 |
Sedaghatian-type spondylometaphyseal dysplasia |
GRIK2 |
Mental retardation, autosomal recessive 6 |
GRIK4 |
Response to antidepressant treatment with citalopram |
GRIN2A |
Epilepsy, focal, with speech disorder and with or without mental retardation |
GRIN2B |
Mental retardation, autosomal dominant 6 Epileptic encephalopathy, early infantile 27 |
GRM1 |
Spinocerebellar ataxia, autosomal recessive 13 |
GRM6 |
Night blindness, congenital stationary, type 1B |
GSN |
Amyloidosis, Finnish type |
GYPB |
Blood group, Ss |
GYPC |
Blood group, Gerbich Blood group, Webb Blood group, Duch |
GYS1 |
Glycogen storage disease, type 0, muscle |
GYS2 |
Glycogen storage disease, type 0, liver |
H6PD |
Cortisone reductase deficiency |
HABP2 |
Thyroid cancer, nonmedullary 5 |
HAL |
Histidinemia |
HCN4 |
Brugada syndrome 8 Sick sinus syndrome 2 |
HDAC4 |
Brachydacytly-mental retardation syndrome |
HEPACAM |
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2A |
HERC2 |
Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38 |
HES7 |
Spondylocostal dysostosis 4, autosomal recessive |
HEXA |
Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency |
HEXB |
Sandhoff disease |
HGD |
Alkaptonuria |
HIBCH |
3-hydroxyisobutryl-CoA hydrolase deficiency |
HK1 |
Hemolytic anemia, nonspherocytic, due to hexokinase deficiency |
HLA-A |
Drug-induced toxicity, susceptibility to |
HLA-B |
Drug-induced toxicity, susceptibility to |
HMCN1 |
Macular degeneration, age-related, 1 |
HMGCR |
Statins, efficacy of |
HNF1A |
Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III |
HNF1B |
Renal cell carcinoma, nonpapillary chromophobe |
HNMT |
Mental retardation, autosomal recessive 51 |
HOGA1 |
Hyperoxaluria, primary, type III |
HOXA13 |
Hand-foot-genital syndrome Guttmacher syndrome Hand-foot-uterus syndrome |
HOXD13 |
Brachydactyly-syndactyly syndrome Brachydactyly, type D Brachydactyly, type E1 Syndactyly, type V Synopolydactyly, type I, Synopolydactyly, type II Synopolydactyly with clefting, autosomal recessive |
HPS1 |
Hermansky-Pudlak syndrome 1 |
HPS3 |
Hermansky-Pudlak syndrome 3 |
HPS4 |
Hermansky-Pudlak syndrome 4 |
HPS6 |
Hermansky-Pudlak syndrome 6 |
HR |
Hypotrichosis 4 Atrichia with papular lesions Alopecia universalis congenita |
HRG |
Thrombophilia due to histidine-rich glycoprotein deficiency |
HSD17B4 |
Perrault syndrome |
HSPA9 |
Anemia, sideroblastic 4 |
HTR2A |
Major depressive disorder, response to citalopram therapy in Clozapine, response to |
HTRA1 |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) |
HYLS1 |
Hydrolethalus syndrome |
IDUA |
Mucopolysaccharidosis type I |
IFIH1 |
Singleton-Merten syndrome 1 |
IFNAR2 |
Immunodeficiency 45 |
IFNGR1 |
Immunodeficiency 27B Immunodeficiency 27A |
IFT80 |
Short-rib thoracic dysplasia 2 with or without polydactyly |
IGF1R |
Insulin-like growth factor I, resistance to |
IGFALS |
Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of |
IGHMBP2 |
Spinal muscular atrophy, distal, autosomal recessive, 1 Charcot-Marie-Tooth disease, axonal, type 2S |
IHH |
Brachydactyly, type A1 Acrocapitofemoral dysplasia |
IKBKAP |
Dysautonomia, familial |
IL10RB |
Inflammatory bowel disease 25, early onset, autosomal recessive |
IL17RA |
Candiasis, familial, 5 |
IL21 |
Immunodeficiency, common variable, 11 |
IL31RA |
Amyloidois, primary localized cutaneous, 2 |
IL7R |
Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive |
ILDR1 |
Deafness, autosomal recessive 42 |
IMPDH1 |
Retinitis pigmentosa 10 Leber congenital amaurosis 11 |
INF2 |
Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E |
INSL3 |
Cryptorchidism |
INSR |
Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome |
IQCB1 |
Senior-Loken syndrome 5 |
IQSEC2 |
Mental retardation, X-linked 1 |
IRF4 |
Skin/hair/eye pigmentation, variation in, 8 |
IRF6 |
Popliteal pterygium syndrome van der Woude syndrome 1 Orofacial cleft 6 |
IRF7 |
Immunodeficiency 39 |
IRF8 |
Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) Immunodeficiency 32B (monocyte and dendritic cell deficiency) |
ITGA2B |
Glanzmann thrombasthenia |
ITGA3 |
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa |
ITGA7 |
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency |
ITGB4 |
Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa simplex, Weber-Cockayne type |
ITM2B |
Cerebral amyloid angiopathy Dementia, familial Danish Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
ITPA |
Inosine triphosphatase deficiency |
ITPR1 |
Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 |
IYD |
Thyroid dyshormonogenesis 4 |
JAG1 |
Alagille syndrome |
JAK2 |
Thrombocythemia 3 |
JPH2 |
Cardiomyopathy, familial hypertrophic 17 |
JPH3 |
Huntington disease-like 2 |
JUP |
Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease |
KANK1 |
Cerebral palsy, spastic quadriplegic, 2 |
KANSL1 |
Koolen-de Vries syndrom |
KARS |
Charcot-Marie-Tooth disease, recessive intermediate B |
KAT6B |
Ohdo syndrome, SBBYS variant Genitopatellar syndrome |
KCNC3 |
Spinocerebellar ataxia 13 |
KCNH2 |
Long QT syndrome 2 Short QT syndrome 1 |
KCNJ1 |
Bartter syndrome, antenatal, type 2 |
KCNJ11 |
Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 2 Diabetes mellitus, transient neonatal, 3 Diabetes, permanent neonatal, with Neurologic features |
KCNJ6 |
Keppen-Lubinsky syndrome |
KCNK18 |
Migraine, with or without aura, susceptibility to, 13 |
KCNQ1 |
Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome 2 Atrial fibrillation, familial 3 |
KCNQ2 |
Epileptic encephalopathy, early infantile, 7 Benign familial neonatal seizures, 1 Myokymia |
KCNQ4 |
Deafness, autosomal dominant 2A |
KCTD7 |
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions |
KEL |
Blood group, Kell system |
KIAA0196 |
Spastic paraplegia 8 Ritscher-Schinzel syndrome 1 (3C syndrome) |
KIF1A |
Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive |
KIF1B |
Neuroblastoma, susceptibility to Pheochromocytoma |
KIRREL3 |
Mental retardation, autosomal dominant 4 |
KISS1 |
Hypogonadotropic hypogonadism 13 with or without anosmia |
KL |
Tumoral calcinosis, hyperphosphatemic |
KLF11 |
Maturity-onset diabetes of the young, type VII |
KLHL3 |
Pseudohypoaldosteronism, type IID |
KLHL7 |
Retinitis pigmentosa 42 |
KRIT1 |
Cerebral cavernous malformations 1 |
KRT1 |
Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis |
KRT2 |
Ichthyosis bullosa of Siemens Ichthyosis exfoliativa |
KRT3 |
Meesmann corneal dystrophy |
KRT5 |
Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex with migratory circinate erythema Epidermolysis bullosa simplex with mottled pigmentation Dowling-Degos disease 1 |
KRT6B |
Pachyonychia congenita 4 |
KRT74 |
Ectodermal dysplasia 7, hair/nail type Hypotrichosis 3 Woolly hair, autosomal dominant |
KRT75 |
Pseudofolliculitis barbae |
KRT81 |
Monilethrix |
KRT83 |
Monilethrix |
KRT86 |
Monilethrix |
L2HGDH |
L-2-hydroxyglutaric aciduria |
LAMA1 |
Poretti-Boltshauser syndrome |
LAMA2 |
Schizophrenia Muscular dystrophy, congenital merosin-deficient, 1A |
LAMA3 |
Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign |
LAMA4 |
Cardiomyopathy, dilated, 1JJ |
LAMB1 |
Lissencephaly 5 |
LAMB3 |
Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, Herlitz type Amelogenesis imperfecta, type IA |
LAMC3 |
Cortical malformations, occipital |
LARGE |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
LARS2 |
Perrault syndrome 4 |
LCA5 |
Leber congenital amaurosis 5 |
LCT |
Lactase deficiency, congenital |
LDB3 |
Cardiomyopathy, dilated 1C, with or without ventricular noncompaction Myopathy, myofibrillar 4 |
LDHA |
Glycogen storage disease XI |
LDLR |
Hypercholesterolemia, familial |
LDLRAP1 |
Hypercholesterolemia, familial, autosomal recessive |
LEMD3 |
Buschke-Ollendorff syndrome Osteopoikilosis |
LFNG |
Spondylocostal dysostosis, autosomal recessive 3 |
LHCGR |
Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male |
LHX3 |
Pituitary hormone deficiency, combined, 3 |
LHX4 |
Pituitary hormone deficiency, combined, 4 |
LIFR |
Stuve-Wiedemann syndrome |
LIPC |
Hepatic lipase deficiency |
LIPE |
Abdominal obesity-metabolic syndrome 4 |
LIPI |
Hypertriglyceridemia, familial |
LMAN1 |
Combined factor V and VIII deficiency |
LMF1 |
Combined lipase deficiency |
LMNB2 |
Liopdystrophy, partial, acquired Epilepsy, progressive myoclonic, 9 |
LMX1B |
Nail-patella syndrome |
LOR |
Vohwinkel syndrome, variant form |
LOXHD1 |
Deafness, autosomal recessive 77 |
LPA |
Lipoprotein A deficiency, congenital |
LPIN1 |
Myoglobinuria, acute, recurrent, autosomal recessive |
LRP1 |
Schizophrenia |
LRP2 |
Donnai-Barrow syndrome Faciooculoacousticorenal syndrome |
LRP4 |
Cenani-Lenz syndactyly syndrome Myasthenic syndrome, congenital 17 Sclerosteosis 2 |
LRP5 |
van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome |
LRPPRC |
Leigh syndrome, French-Canadian type |
LRRC6 |
Ciliary dyskinesia, primary 19 |
LRRC8A |
Agammaglobulinemia 5 |
LRRK2 |
Parkinson disease 8 Dementia, Lewy body |
LRSAM1 |
Charcot-Marie-Tooth disease, axonal, type 2P |
LTBP2 |
Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3 |
MAK |
Retinitis pigmentosa 62 |
MAN2B1 |
Mannosidosis, alpha B, lysosomal |
MANBA |
Mannosidosis, beta A, lysosomal |
MAP2K2 |
Cardiofaciocutaneous syndrome |
MAP3K1 |
46,XY sex reversal 6 |
MAPK8IP1 |
Diabetes mellitus |
MASP2 |
MASP2 deficiency |
MASTL |
Thrombocytopenia 2 |
MAT1A |
Methionine adenosyltransferase deficiency |
MATN3 |
Spondyloepimetaphyseal dysplasia, matrilin-3 related Epiphyseal dysplasia, multiple, 5 |
MC1R |
Increased analgesia from kappa-opioid receptor agonist, female specific |
MC4R |
Obesity, autosomal dominant |
MCEE |
Methylmalonyl-CoA epimerase deficiency |
MCOLN1 |
Mucolipidosis IV |
MCPH1 |
Microcephaly, primary autosomal recessive, 1 |
MED17 |
Microcephaly, postnatal progressive, with seizures and brain atrophy |
MED25 |
Basel-Vanagait-Smirin-Yosef syndrome Charcot-Marie-Tooth disease, axonal, tybe 2B2 |
MEFV |
Familial Mediterranean fever |
MEN1 |
Hyperparathyroidism, familial primary Multiple endocrine neoplasia type I |
MERTK |
Retinitis pigmentosa 38 |
MET |
Renal cell carcinoma, papillary Deafness, autosomal recessive 97 |
MFRP |
Retinitis pigmentosa, autosomal recessive Microphthalmia, isolated 5 Nanophthalmos 2 |
MKKS |
McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 |
MLC1 |
Megalencephalic leukoencephalopathy with subcortical cysts |
MLH3 |
Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma |
MMAB |
Methylmalonic acidemia, cblB type |
MMP14 |
Winchester syndrome |
MMP20 |
Amelogenesis imperfecta, hypomaturation type, IIA2 |
MMP9 |
Metaphyseal anadysplasia 2 |
MNX1 |
Currarino syndrome |
MOG |
Narcolepsy 7 |
MPDZ |
Hydrocephalus, nonsyndromic, autosomal recessive 2 |
MR1 |
Paroxysmal nonkinesigenic dyskinesia |
MRPL3 |
Combined oxidative phosphorylation deficiency 9 |
MSH3 |
Endometrial carcinoma |
MSR1 |
Barrett esophagus/esophageal adenocarcinoma Prostate cancer |
MSX1 |
Orofacial cleft 5 Tooth agenesis, selective, 1, with/without orofacial cleft Witkop syndrome |
MTHFD1 |
Severe combined immunodeficiency |
MTHFR |
Homocystinuria due to MTHFR deficiency |
MTR |
Methylmalonic acidemia, cblG type |
MTRR |
Homocystinuria-megaloblastic anemia, cobalamin E type |
MTTP |
Abetalipoproteinemia |
MUC1 |
Medullary cystic kidney disease 1 |
MUT |
Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency |
MVK |
Mevalonic aciduria Hyper-IgD syndrome |
MYH11 |
Aortic aneurysm, familial thoracic 4 |
MYH14 |
Deafness, autosomal dominant 4B Deafness, autosomal dominant 4 Peripheral neuropathy, myopathy, hoarseness, and hearing loss |
MYH2 |
Inclusion body myopathy 3 |
MYH3 |
Arthrogryposis, distal, type 2A Arthyrgryposis, distal, type 2B Arthrogryposis, distal, type 8 |
MYH6 |
Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14 |
MYH8 |
Carney complex variant Arthrogryposis, distal, type 7 Trismus-pseudocamptodactyly syndrome |
MYLK |
Aortic aneurysm, familial thoracic 7 |
MYO15A |
Deafness, autosomal recessive 3 |
MYO18B |
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism |
MYO1A |
Deafness, autosomal dominant 48 |
MYO1E |
Focal segmental glomerulosclerosis 6 |
MYO3A |
Deafness, autosomal recessive 30 |
MYO5A |
Griscelli syndrome, type 1 |
MYO5B |
Diarrhea 2, with microvillus atrophy |
MYO7A |
Deafness, autosomal recessive 2 Usher syndrome, type 1B |
MYOC |
Glaucoma, primary open angle |
MYPN |
Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4 |
NAGS |
N-acetylglutamate synthase deficiency |
NAT2 |
Acetylation, NAT2-related |
NBAS |
Infantile liver failure syndrome 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) |
NBEAL2 |
Gray platelet syndrome |
NBN |
Breast cancer, susceptibility to Nijmegen breakage syndrome |
NCF4 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III |
NDUFAF2 |
Leigh syndrome Mitochondrial complex I deficiency |
NDUFAF4 |
Mitochondrial complex I deficiency |
NDUFS1 |
Mitochondrial complex I deficiency |
NDUFS2 |
Mitochondrial complex I deficiency |
NDUFS3 |
Leigh syndrome Mitochondrial complex I deficiency |
NDUFS4 |
Leigh syndrome Mitochondrial complex I deficiency |
NDUFS7 |
Leigh syndrome Mitochondrial complex I deficiency |
NEB |
Nemaline myopathy 2 |
NEUROG3 |
Diarrhea 4, malabsorptive, congenital |
NFKB1 |
Immunodeficiency, common variable, 12 |
NFKBIA |
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency |
NFU1 |
Multiple mitochondrial dysfunctions syndrome 1 |
NGF |
Neuropathy, hereditary sensory and autonomic, type V |
NIPA1 |
Spastic paraplegia 6 |
NKX2-6 |
Conotruncal heart malformations Persistent truncus arteriosus |
NLRP1 |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia |
NME8 |
Ciliary dyskinesia, primary, 6 |
NODAL |
Heterotaxy, visceral, 5 |
NOP56 |
Spinocerebellar ataxia 36 |
NOTCH1 |
Aortic valve disease |
NOTCH2 |
Alagille syndrome 2 |
NOTCH3 |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1) |
NPAT |
Nodular lymphocyte predominant Hodgkin lymphoma, familial |
NPC1 |
Niemann-Pick disease, type C1 Niemann-Pick disease, type D |
NPC1L1 |
Ezetimibe, nonresponse to |
NPHP1 |
Joubert syndrome 4 Senior-Loken syndrome 1 Nephronophthisis 1 |
NPHP3 |
Nephronophthisis 3 Meckel syndrome 7 Renal-hepatic-pancreatic dysplasia |
NPHP4 |
Nephronophthisis 4 Senior-Loken syndrome 4 |
NPPA |
Atrial fibrillation, familial, 6 Atrial standstill 2 |
NR3C1 |
Glucocorticoid resistance |
NR3C2 |
Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
NRIP1 |
Schizophrenia |
NRXN1 |
Schizophrenia 17 Pitt-Hopkins-like syndrome 2 |
NSD1 |
Beckwith-Wiedemann syndrome Weaver syndrome Sotos syndrome |
NT5C3A |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to |
NTRK1 |
Insensitivity to pain, congenital, with anhidrosis |
NUP155 |
Atrial fibrillation 15 |
NUP62 |
Striatonigral degeneration, infantile |
OCA2 |
Skin/hair/eye pigmentation 1 Albinism, oculocutaneous, type II Albinism, brown oculocutaneous |
OPN1SW |
Tritanopia |
OPTN |
Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E |
ORAI1 |
Immunodeficiency 9 |
OSMR |
Amyloidosis, primary localized cutaneous, 1 |
OTOA |
Deafness, autosomal recessive 22 |
OTOF |
Deafness, autosomal recessive 9 Neuropathy, autosomal recessive, 1 |
P2RY12 |
Bleeding disorder, platelet-type, 8 |
PANK2 |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Neurodegeneration with brain iron accumulation 1 |
PARK2 |
Parkinson disease 2, autosomal recessive juvenile |
PAX2 |
Isolated renal hypoplasia Papillorenal syndrome |
PAX4 |
Diabetes mellitus |
PCCA |
Propionic acidemia |
PCNT |
Microcephalic osteodysplastic primordial dwarfism, type II |
PDGFRA |
Gastrointestinal stromal tumor |
PDHB |
Pyruvate dehydrogensae E1-beta deficiency |
PDHX |
Pyruvate dehydrogenase E3-binding protein deficiency |
PEPD |
Prolidase deficiency |
PER2 |
Advanced sleep phase syndrome, familial |
PER3 |
Advanced sleep phase syndrome, familial, 3 |
PEX10 |
Peroxisome biogenesis disorder 6B Peroxisome biogenesis factor disorder 10 Adrenoleukodystrophy, neonatal Zellweger syndrome Ataxia, autosomal recessive |
PEX14 |
Zellweger syndrome Peroxisome biogenesis factor disorder 14 |
PEX16 |
Peroxisome biogenesis factor disorder 16 |
PEX6 |
Heimler syndrome 2 |
PFN1 |
Amyotrophic lateral sclerosis 18 |
PGM1 |
Congenital disorder of glycosylation, type It |
PHKG2 |
Glycogen storage disease IXc |
PHOX2B |
Central hypoventilation syndrome, congenital Neuroblastoma with Hirschsprung disease Neuroblastoma, susceptiblity to, 2 |
PIEZO2 |
Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome |
PIGN |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
PIGO |
Hyperphosphatasia with mental retardation syndrome 2 |
PIK3CA |
Cowden syndrome 5 |
PIK3CD |
Immunodeficiency 14 |
PIK3R1 |
Agammaglobulinemia 7, autosomal recessive |
PIP5K1C |
Lethal congenital contractural syndrome 3 |
PITPNM3 |
Cone-rod dystrophy 5 |
PITX1 |
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome |
PKD1 |
Polycystic kidney disease, adult type I |
PKD2 |
Polycystic kidney disease 2 |
PKHD1 |
Polycystic kidney disease, autosomal recessive |
PKP1 |
Ectodermal dysplasia/skin fragility syndrome |
PKP2 |
Arrhythmogenic right ventricular dysplasia, familial 9 |
PLAU |
Quebec platelet disorder |
PLCB1 |
Epileptic encephalopathy, early infantile, 12 |
PLCE1 |
Nephrotic syndrome, type 3 |
PLCG2 |
Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID) |
PLEC |
Muscular dystrophy, limb-girdle, type 2Q Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy |
PLG |
Plasminogen deficiency, type I |
PLOD1 |
Ehlers-Danlos syndrome type VI |
PNP |
Purine nucleoside phosphorylase deficiency |
PNPLA1 |
Ichthyosis, congenital, autosomal recessive 10 |
PNPLA2 |
Neutral lipid storage disease with myopathy |
POGZ |
Mental retardation, autosomal dominant 37 (White-Sutton syndrome) |
POLG |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders |
POMT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
POMT2 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2 |
POR |
Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
POU3F4 |
Deafness, X-linked 2 |
POU6F2 |
Wilms tumor 5 |
PPARG |
Lipodystrophy, familial, partial, type 3 Insulin resistance, severe, digenic |
PPP1R3A |
Insulin resistance, severe, digenic |
PRKAG3 |
Increased glyogen content in skeletal muscle |
PRKCG |
Spinocerebellar ataxia 14 |
PRKDC |
Immunodeficiency 26 with or without neurologic abnormalities |
PRKRA |
Dystonia 16 |
PROC |
Thrombophilia, hereditary, due to protein C deficiency |
PRODH |
Hyperprolinemia, type I |
PROKR2 |
Hypogonadotropic hypogonadism 3 with or without anosmia |
PROP1 |
Pituitary hormone deficiency, combined, 2 |
PROS1 |
Thrombophilia, hereditary, due to protein S deficiency |
PRPH2 |
Retinitis punctata albescens Choriodal dystrophy, central areolar 2 Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7 |
PRRT2 |
Episodic kinesigenic dyskinesia 1 |
PRSS1 |
Pancreatitis, hereditary |
PRSS12 |
Mental retardation, autosomal recessive 1 |
PSMB8 |
Nakajo-Nishimura syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome |
PSMC3IP |
Ovarian dysgenesis 3 |
PSPH |
Phosphoserine phosphatase deficiency |
PTCH1 |
Basal cell nevus syndrome |
PTF1A |
Pancreatic and cerebellar agenesis Pancreatic agenesis 2 |
PTPN14 |
Choanal atresia and lymphedema |
PTPRF |
Breasts and/or nipples, aplasia or hypoplasia of, 2 |
PTPRO |
Nephrotic syndrome, type 6 |
PTPRQ |
Deafness, autosomal recessive 84 |
PXDN |
Corneal opacification with other ocular anomalies |
RAB23 |
Carpenter syndrome 1 |
RAB3GAP1 |
Warburg micro syndrome 1 |
RAD21 |
Cornelia de Lange syndrome 4 |
RAI1 |
Smith-Magenis syndrome |
RANBP2 |
Encephalopathy, acute, infection-induced, 3, susceptibility to |
RAPSN |
Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency |
RARS2 |
Pontocerebellar hypoplasia, type 6 |
RAX |
Microphthalmia, isolated 3 |
RB1CC1 |
Schizophrenia |
RBP3 |
Retinitis pigmentosa 66 |
RELN |
Epilepsy, familial temporal lobe, 7 Lissencephaly 2 |
REN |
Hyperuricemic nephropathy, familial juvenile 2 |
RFXANK |
MHC class II deficiency |
RGS9BP |
Bradyopsia |
RHBDF2 |
Tylosis with esophageal cancer |
RHCE |
Rhesus blood group |
RIN2 |
Macrocephaly, alopecia, cutis laxa, and scoliosis |
RIPK4 |
Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome |
RNASET2 |
Leukoencephalopathy, cystic, without megalencephaly |
RNF139 |
Renal cell carcinoma, clear cell |
RNF168 |
RIDDLE syndrome |
RNF213 |
Moyamoya disease 2 |
ROBO3 |
Gaze palsy, horizontal, with progressive scoliosis |
ROR2 |
Robinow syndrome, autosomal recessive Brachydactyly, type B1 |
RP1 |
Retinitis pigmentosa 1, autosomal dominant Retinitis pigmentosa 1, autosomal recessive |
RP1L1 |
Retinitis pigmentosa, autosomal recessive Occult macular dystrophy |
RPE65 |
Retinitis pigmentosa 20 Leber congenital amaurosis 2 |
RPGRIP1 |
Leber congenital amaurosis 6 Cone-rod dystrophy 13 |
RPGRIP1L |
COACH syndrome Meckel syndrome 5 Joubert syndrome 7 Retinal degeneration in ciliopathy, modifier of |
RPL11 |
Diamond-Blackfan anemia 7 |
RXFP2 |
Cryptorchidism |
RYR1 |
Malignant hyperthermia, susceptibility 1 Central core disease Minicore myopathy Multicore myopathy Minicore myopathy with external ophthalmoplegia Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia) |
RYR2 |
Ventricular tachycardia, catecholaminergic polymorphic, 1 Arrhythmogenic right ventricular dysplasia 2 |
SACS |
Spastic ataxia, Charlevoix-Saguenay type |
SAG |
Retinitis pigmentosa 47 Oguchi disease 1 |
SALL4 |
Duane-radial ray/Okohiro syndrome Acro-Renal-Ocular syndrome |
SART3 |
Porokeratosis, disseminated superficial actinic, 1 |
SCARF2 |
Van den Ende-Gupta syndrome |
SCN1B |
Atrial fibrillation, familial 13 Brugada syndrome 5 |
SCN5A |
Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1 |
SCN8A |
Cognitive impairment with or without cerebellar ataxia Epileptic encephalopathy, early infantile, 13 |
SCN9A |
Paroxysmal extreme pain disorder |
SCNN1G |
Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3 |
SCO1 |
Mitochondrial complex IV deficiency |
SDCCAG8 |
Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 |
SDHA |
Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency |
SDHD |
Pheochromocytoma Paraganglioma and gastric stromal sarcoma Cowden syndrome 3 Paragangliomas 1 Carcinoid tumors, intestinal |
SEC23A |
Craniolenticulosutural dysplasia |
SEC23B |
Cowden syndrome 7 Anemia, dyserythropoietic congenital, type II |
SEMA3E |
CHARGE syndrome |
SEPN1 |
Muscular dystrophy, rigid spine, 1 Myopathy, congenital, with fiber-type disproportion |
SEPT12 |
Spermatogenic failure 10 |
SEPT9 |
Amyotrophy, hereditary neuralgic |
SERPINA1 |
Alpha-1-Antitrypsin deficiency |
SERPINB6 |
Deafness, autosomal recessive 91 |
SERPINC1 |
Antithrombin III deficiency |
SERPINF2 |
Alpha-2-plasmin inhibitor deficiency |
SERPINH1 |
Osteogenesis imperfecta, type X |
SETBP1 |
Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome |
SETX |
Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2 |
SGCG |
Muscular dystrophy, limb-girdle, type 2C |
SGSH |
Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) |
SH3PXD2B |
Frank-ter Haar syndrome |
SHANK3 |
Schizophrenia Phelan-McDermid syndrome |
SHROOM4 |
Stocco dos Santos X-linked mental retardation syndrome |
SI |
Sucrase-isomaltase deficiency, congenital |
SIGMAR1 |
Amyotrophic lateral sclerosis 16, juvenile Frontotemporal lobar degeneration-motor neuron disease Spinal muscular atrophy, distal, autosomal recessive, 2 |
SIL1 |
Marinesco-Sjogren syndrome |
SIX3 |
Holoprosencephaly |
SIX5 |
Branchiootorenal syndrome 2 |
SIX6 |
Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy |
SKIV2L |
Trichohepatoenteric syndrome 2 |
SLC11A2 |
Anemia, hypochromic microcytic, with iron overload |
SLC12A1 |
Bartter syndrome, antenatal, type 1 |
SLC12A3 |
Gitelman syndrome |
SLC16A12 |
Cataract, juvenile, with microcornea and glucosuria |
SLC20A2 |
Basal ganglia calcification, idiopathic, 1 |
SLC22A5 |
Carnitine deficiency, systemic primary |
SLC24A1 |
Night blindness, congenital stationary, type 1D |
SLC25A13 |
Citrin deficiency |
SLC25A15 |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC25A19 |
Thiamine metabolism dysfunction syndrome 4 Microcephaly, Amish type |
SLC25A22 |
Epileptic encephalopathy, early infantile, 3 |
SLC25A38 |
Anemia, sideroblastic 2, pyridoxine-refractory |
SLC26A3 |
Diarrhea 1, secretory chloride, congenital |
SLC29A3 |
Histiocytosis-lymphadenopathy plus syndrome |
SLC2A2 |
Glycogen storage disease XI Neonatal diabetes mellitus Fanconi-Bickel syndrome |
SLC2A9 |
Hypouricemia, renal, 2 |
SLC35C1 |
Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type II |
SLC37A4 |
Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id |
SLC39A13 |
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like |
SLC39A4 |
Acrodermatitis enteropathica |
SLC3A1 |
Cystinuria |
SLC41A1 |
Nephronophthisis-like ciliopathy |
SLC45A2 |
Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5 |
SLC4A11 |
Cryohydrocytosis |
SLC4A4 |
Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine |
SLC52A1 |
Maternal riboflavin deficiency |
SLC5A7 |
Neuronopathy, distal hereditary motor, type VIIA |
SLC6A19 |
Hartnup disease |
SLC6A2 |
Orthostatic intolerance |
SLC6A3 |
Parkinsonism-dystonia, infantile |
SLC6A5 |
Hyperekplexia 3 |
SLC7A7 |
Lysinuric protein intolerance |
SLC7A9 |
Cystinuria |
SLC9A9 |
Autism susceptibility 16 |
SLCO1B1 |
Statin-induced myopathy Hyperbilirubinemia, Rotor type, digenic |
SLCO1B3 |
Hyperbilirubinemia, Rotor type, digenic |
SLCO2A1 |
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Primary hypertrophic osteoarthropathy |
SLX4 |
Fanconi anemia type P |
SMAD3 |
Aneurysms-osteoarthritis syndrome Loeys-Dietz syndrome, type 3 |
SMARCA2 |
Nicolaides-Baraitser syndrome |
SMARCA4 |
Rhabdoid tumor predisposition syndrome 2 |
SMARCAD1 |
Adermatoglyphia |
SMOC2 |
Dentin dysplasia, type I |
SMPD1 |
Niemann-Pick disease, type A Niemann-Pick disease, type B |
SNRNP200 |
Retinitis pigmentosa 33 |
SP110 |
Hepatic venoocclusive disease with immunodeficiency |
SPATA16 |
Spermatogenic failure 6 |
SPATA7 |
Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related |
SPECC1L |
Facial clefting, oblique, 1 Opitz GBBB syndrome, type II |
SPG11 |
Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11 |
SPINK5 |
Netherton syndrome |
SPTA1 |
Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2 |
SPTAN1 |
Epileptic encephalopathy, early infantile, 5 |
SPTB |
Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic |
SPTBN2 |
Spinocerebellar ataxia 5, autosomal dominant Spinocerebellar ataxia 14, autosomal recessive |
SRD5A3 |
Kahrizi syndrome Congenital disorder of glycosylation, type Iq |
SRP72 |
Bone marrow failure syndrome 1 |
ST14 |
Ichthyosis, congenital, autosomal recessive 11 |
STAT5B |
Growth hormone insensitivity with immunodeficiency |
STEAP3 |
Hypochromic microcytic anemia with iron overload 2 |
STIL |
Microcephaly, primary autosomal recessive, 7 |
STIM1 |
Stormorken syndrome Immunodeficiency 10 |
STRA6 |
Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8 |
STRC |
Deafness, autosomal recessive 16 |
STX16 |
Pseudohypoparathyroidism, type IB |
SUFU |
Medulloblastoma Basal cell nevus syndrome |
SUGCT |
Glutaric aciduria III |
SURF1 |
Leigh syndrome Charcot-Marie-Tooth disease type 4K |
SYNE1 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8 |
SYNE2 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
SYT2 |
Myasthenic syndrome, congenital 7 |
T |
Chordoma |
TAB2 |
Congenital heart defects, multiple types, 2 |
TAC3 |
Hypogonadotropic hypogonadism |
TAF2 |
Mental retardation, autosomal recessive 40 |
TAP2 |
Bare lymphocyte syndrome, type I |
TAPBP |
Bare lymphocyte syndrome, type I |
TBC1D4 |
Diabetes mellitus, noninsulin-dependent 5 |
TBX1 |
Tetralogy of Fallot Conotruncal anomaly face syndrome |
TBX15 |
Cousin syndrome |
TBX20 |
Atrial septal defect 4 |
TBX4 |
Small patella syndrome |
TBXAS1 |
Ghosal hematodiaphyseal syndrome |
TCN2 |
Transcobalamin II deficiency |
TDRD7 |
Cataract, autosomal recessive congenital 4 |
TECTA |
Deafness, autosomal recessive 21 Deafness, autosomal dominant 8/12 |
TEK |
Venous malformations, multiple cutaneous and mucosal |
TENM4 |
Tremor, hereditary essential, 5 |
TERT |
Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1 |
TF |
Atransferrinemia |
TFRC |
Immunodeficiency 46 |
TG |
Thyroid dyshormonogenesis 3 |
TGFBR2 |
Loeys-Dietz syndrome, type 2B Loeys-Dietz syndrome, type 1B |
TGIF1 |
Holoprosencephaly 4 |
TGM1 |
Ichthyosis, congenital, autosomal recessive 1 |
TGM6 |
Spinocerebellar ataxia 35 |
THBD |
Thrombophilia due to thrombomodulin defect Hemolytic uremic syndrome, atypical, susceptibility to, 6 |
TICAM1 |
Herpes simplex encephalitis, susceptibility to, 4 |
TIMP3 |
Sorsby fundus dystrophy |
TJP2 |
Hypercholanemia, familial Cholestasis, progressive familial intrahepatic 4 |
TMC6 |
Epidermodysplasia verruciformis |
TMEM173 |
STING-associated vasculopathy, infantile-onsent (SAVI) |
TMEM216 |
Joubert syndrome 2 Meckel syndrome 2 |
TMPRSS15 |
Enterokinase deficiency |
TMPRSS3 |
Deafness, autosomal recessive 10 Deafness, autosomal recessive 8 |
TMPRSS6 |
Iron-refractory iron deficiency anemia |
TNC |
Deafness, autosomal dominant 56 |
TNFRSF10B |
Squamous cell carcinoma, head and neck |
TNFRSF11A |
Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7 |
TNFRSF4 |
Immunodeficiency 16 |
TNFSF11 |
Osteopetrosis, autosomal recessive 2 |
TNNT2 |
Cardiomyopathy, familial restrictive, 3 Cardiomyopathy, dilated, 1D Left ventricular noncompaction 6 Cardiomyopathy, familial hypertrophic, 2 |
TNNT3 |
Arthyrgryposis, distal, type 2B |
TNXB |
Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency |
TOPORS |
Retitinis pigmentosa 31 |
TP53 |
Li-Fraumeni syndrome Choroid plexus papilloma Ependymoma, intracranial Osteogenic sarcoma Breast cancer, familial Hepatoblastoma Non-Hodgkin lymphoma Adrenocortical carcinoma Colorectal cancer |
TPCN2 |
Skin/hair/eye pigmentation, variation in, 10 |
TPMT |
Thiopurine S-methyltransferase deficiency |
TPO |
Thyroid dyshormonogenesis 2A |
TPP1 |
Ceroid lipofuscinosis, neuronal, 2 Spinocerebellar ataxia, autosomal recessive 7 |
TRDN |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness |
TREX1 |
Chilblain lupus 1 Vasculopathy, retinal, with cerebral leukodystrophy Aicardi-Goutieres syndrome 1 |
TRIOBP |
Deafness, autosomal recessive 28 |
TRIP11 |
Achondrogenesis, type IA |
TRPA1 |
Episodic pain syndrome, familial |
TRPM1 |
Night blindness, congenital stationary, type 1C |
TRPM6 |
Hypomagnesemia 1, intestinal |
TRPV3 |
Olmsted syndrome Palmoplantar keratoderma, nonepidermolytic focal 2 |
TRPV4 |
Spinal muscular atrophy, distal, congenital nonprogressive Brachyolmia type 3 Metatropic dysplasia Spondyloepiphyseal dysplasia, Maroteaux type Scapuloperoneal spinal muscular atrophy Hereditary motor and sensory neuropathy, type Iic Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Digital arthropathy-brachydactyly, familial |
TSEN34 |
Pontocerebellar hypoplasia type 2C |
TSEN54 |
Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 |
TSFM |
Combined oxidative phosphorylation deficiency 3 |
TSHR |
Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1 |
TSHZ1 |
Aural atresia, congenital |
TSPYL1 |
46, XY disorder of sex development Sudden infant death with dysgenesis of the testes syndrome |
TTBK2 |
Spinocerebellar ataxia 11 |
TTC37 |
Trichohepatoenteric syndrome 1 |
TTI2 |
Mental retardation, autosomal recessive 39 |
TTN |
Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G |
TUBA8 |
Polymicrogyria with optic nerve hypoplasia |
TUBB1 |
Macrothrombocytopenia, autosomal dominant, TUBB1-related |
TULP1 |
Leber congenital amaurosis 15 Retinitis pigmentosa 14 |
TYK2 |
Immunodeficiency 35 |
UBR1 |
Johanson-Blizzard syndrome |
UMOD |
Familial juvenile hyperuricemic nephropathy Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
UNC13D |
Hemophagocytic lymphohistiocytosis, familial 3 |
UPB1 |
Beta-ureidopropionase deficiency |
UPK3A |
Renal/urogenital adysplasia |
UQCRB |
Mitochondrial complex III deficiency |
USH1C |
Usher syndrome, type IC Deafness, autosomal recessive 18A |
USH2A |
Usher syndrome, type 2A |
UVSSA |
UV-sensitive syndrome 3 |
VANGL1 |
Caudal regression syndrome Neural tube defects |
VCAN |
Wagner syndrome 1 |
VCL |
Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W |
VDR |
Vitamin D-dependent rickets, type 2A |
VPS13A |
Choreoacanthocytosis |
VPS13B |
Cohen syndrome |
VSX1 |
Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous |
VSX2 |
Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3 |
VWF |
von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3 |
WAS |
Wiskott-Aldrich syndrome Thrombocytopenia 1 Neutropenia, severe congenital, X-linked |
WDR35 |
Cranioectodermal dysplasia 2 Short -rib thoracic dysplasia 7 with or without polydactyly |
WDR62 |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
WDR72 |
Amelogenesis imperfecta, hypomaturation type, IIA3 |
WDR81 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
WFS1 |
Wolfram syndrome |
WISP3 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood |
WNK1 |
Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA |
WNT7A |
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome Fuhrmann syndrome |
WRAP53 |
Dyskeratosis congenita, autosomal recessive 3 |
WRN |
Werner syndrome |
WT1 |
Denys-Drash syndrome Wilms tumor, type 1 Frasier syndrome |
XDH |
Xanthinuria, type I |
XPC |
Xeroderma pigmentosum, group C |
XRCC4 |
Short stature, microcephaly, and endocrine dysfunction |
ZBTB18 |
Mental retardation, autosomal dominant 22 |
ZEB1 |
Corneal dystrophy, Fuchs endothelial 6 Corneal dystrophy, posterior polymorphous, 3 |
ZFP57 |
Diabetes mellitus, transient neonatal, 1 |
ZFPM2 |
46,XY sex reversal 9 |
ZFYVE27 |
Spastic paraplegia 33, autosomal dominant |
ZMPSTE24 |
Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal |
ZNF335 |
Microcephaly 10, primary, autosomal recessive |
ZNF750 |
Seborrhea-like dermatitis with psoriasiform elements |
Genes at HGMD
Summary
Number of Variants: 5970
Number of Genes: 1911
A4GALT |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 22 | rs11541159
dbSNP Clinvar |
43089849 | 1089.08 | T | C | PASS | 0/1 | 111 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.35064 | 0.35060 | 0.40440 | 0.26 | 0.00 | None None | None None None None | A4GALT|0.02220674|73.08% | ||||
View | ngs049p_s3 | 22 | rs9623659
dbSNP Clinvar |
43088971 | 898.85 | C | T | PASS | 0/1 | 86 | SYNONYMOUS_CODING | LOW | None | 0.34904 | 0.34900 | 0.40420 | None None | None None None None | A4GALT|0.02220674|73.08% | ||||||
AADAC |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 3 | rs1803155
dbSNP Clinvar |
151545601 | 288.71 | G | A | PASS | 0/1 | 26 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.73443 | 0.73440 | 0.22189 | 0.04 | 0.16 | None None | None None None None | AADAC|0.00221398|90.39% | ||||
AARS2 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 6 | rs498512
dbSNP Clinvar |
44269193 | 1554.32 | C | T | PASS | 0/1 | 111 | SYNONYMOUS_CODING | LOW | None | 0.58267 | 0.58270 | 0.32101 | None None | None None None None | TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33% | ||||||
ABCA1 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 9 | rs2066715
dbSNP Clinvar |
107588033 | 987.48 | C | T | PASS | 0/1 | 65 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.11322 | 0.11320 | 0.04721 | 1.00 | 0.00 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||
View | ngs049p_s3 | 9 | rs2230808
dbSNP Clinvar |
107562804 | 708.68 | T | C | PASS | 0/1 | 55 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.53834 | 0.53830 | 0.41496 | 0.61 | 0.09 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||
View | ngs049p_s3 | 9 | rs2230805
dbSNP Clinvar |
107624029 | 676.5 | C | T | PASS | 0/1 | 59 | SYNONYMOUS_CODING | LOW | None | 0.37240 | 0.37240 | 0.32224 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||||
View | ngs049p_s3 | 9 | rs2230806
dbSNP Clinvar |
107620867 | 544.67 | C | T | PASS | 0/1 | 62 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.43970 | 0.43970 | 0.39151 | 0.66 | 0.00 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||
View | ngs049p_s3 | 9 | rs2853579
dbSNP Clinvar |
107591272 | 1062.37 | G | T | PASS | 0/1 | 67 | SYNONYMOUS_CODING | LOW | None | 0.33906 | 0.33910 | 0.22413 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||||
View | ngs049p_s3 | 9 | rs2066714
dbSNP Clinvar |
107586753 | 637.31 | T | C | PASS | 0/1 | 58 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.35683 | 0.35680 | 0.24596 | 0.28 | 0.00 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||
ABCA10 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 17 | rs4968849
dbSNP Clinvar |
67178316 | 605.2 | A | G | PASS | 0/1 | 45 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.71126 | 0.71130 | 0.24304 | 1.00 | 0.00 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
View | ngs049p_s3 | 17 | rs9909216
dbSNP Clinvar |
67212423 | 1132.19 | G | A | PASS | 0/1 | 64 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.58067 | 0.58070 | 0.34515 | 0.03 | 0.03 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
View | ngs049p_s3 | 17 | rs11077414
dbSNP Clinvar |
67212031 | 943.95 | A | G | PASS | 0/1 | 67 | SYNONYMOUS_CODING | LOW | None | 0.06470 | 0.47140 | 0.42465 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||||
View | ngs049p_s3 | 17 | rs12941264
dbSNP Clinvar |
67215712 | 551.23 | C | T | PASS | 0/1 | 49 | SYNONYMOUS_CODING | LOW | None | 0.59844 | 0.59840 | 0.32759 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||||
View | ngs049p_s3 | 17 | rs11657804
dbSNP Clinvar |
67210992 | 340.81 | T | C | PASS | 0/1 | 33 | NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | MODERATE | None | 0.26158 | 0.26160 | 0.29885 | 0.30 | 0.16 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
ABCA12 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs17501837
dbSNP Clinvar |
215901774 | 639.5 | C | T | PASS | 0/1 | 55 | SYNONYMOUS_CODING | LOW | None | 0.22344 | 0.22340 | 0.18976 | None None | None None None None | ABCA12|0.403146751|20.59% | ||||||
ABCA13 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 7 | rs17132289
dbSNP Clinvar |
48428715 | 1177.99 | A | T | PASS | 0/1 | 94 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.08566 | 0.08566 | 0.07975 | 0.69 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
ABCA3 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 16 | rs13332514
dbSNP Clinvar |
2367336 | 1281.64 | G | A | PASS | 0/1 | 87 | SYNONYMOUS_CODING | LOW | None | 0.19269 | 0.19270 | 0.09465 | None None | None None None None | ABCA3|0.043607901|64.64% | ||||||
ABCA4 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 1 | rs1801359
dbSNP Clinvar |
94467447 | 367.39 | G | A | PASS | 0/1 | 30 | SYNONYMOUS_CODING | LOW | None | 0.13399 | 0.13400 | 0.14601 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||||
View | ngs049p_s3 | 1 | rs1801574
dbSNP Clinvar |
94476388 | 461.33 | C | G | PASS | 0/1 | 52 | SYNONYMOUS_CODING | LOW | None | 0.20068 | 0.20070 | 0.24927 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||||
View | ngs049p_s3 | 1 | rs4147857
dbSNP Clinvar |
94474328 | 667.71 | T | C | PASS | 0/1 | 46 | SYNONYMOUS_CODING | LOW | None | 0.18750 | 0.18750 | 0.20691 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||||
View | ngs049p_s3 | 1 | rs6657239
dbSNP Clinvar |
94564483 | 449.41 | C | T | PASS | 0/1 | 38 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.05331 | 0.05331 | 0.04644 | 0.04 | 0.05 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||
View | ngs049p_s3 | 1 | rs3112831
dbSNP Clinvar |
94544234 | 566.18 | T | C | PASS | 0/1 | 59 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.22085 | 0.22080 | 0.26065 | 0.63 | 0.00 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||
View | ngs049p_s3 | 1 | rs1762114
dbSNP Clinvar |
94471075 | 372.69 | A | G | PASS | 0/1 | 43 | SYNONYMOUS_CODING | LOW | None | 0.76997 | 0.77000 | 0.22428 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||||
View | ngs049p_s3 | 1 | rs2275029
dbSNP Clinvar |
94473845 | 975.26 | T | C | PASS | 0/1 | 67 | SYNONYMOUS_CODING | LOW | None | 0.16713 | 0.16710 | 0.19968 | None None | None None None None | ABCA4|0.440503373|18.63% | ||||||
ABCA7 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 19 | rs754161507
dbSNP Clinvar |
1052242 | 861.41 | C | T | PASS | 0/1 | 61 | SYNONYMOUS_CODING | LOW | None | None None | None None None None | ABCA7|0.007770288|82.8% | |||||||||
View | ngs049p_s3 | 19 | rs4147935
dbSNP Clinvar |
1065044 | 816.24 | C | T | PASS | 0/1 | 60 | SYNONYMOUS_CODING | LOW | None | 0.26141 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||||||
View | ngs049p_s3 | 19 | rs3764645
dbSNP Clinvar |
1042809 | 779.17 | A | G | PASS | 0/1 | 55 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.39956 | 0.39960 | 0.38867 | 0.48 | 0.00 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||
View | ngs049p_s3 | 19 | rs4147914
dbSNP Clinvar |
1049269 | 1252.14 | G | A | PASS | 0/1 | 92 | SYNONYMOUS_CODING | LOW | None | 0.24062 | 0.24060 | 0.15286 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||||
View | ngs049p_s3 | 19 | rs4147930
dbSNP Clinvar |
1064193 | 718.88 | G | A | PASS | 0/1 | 87 | SYNONYMOUS_CODING | LOW | None | 0.60643 | 0.60640 | 0.29566 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||||
View | ngs049p_s3 | 19 | rs3752240
dbSNP Clinvar |
1051214 | 780.95 | A | G | PASS | 0/1 | 69 | SYNONYMOUS_CODING | LOW | None | 0.28914 | 0.28910 | 0.36546 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||||
View | ngs049p_s3 | 19 | rs4147934
dbSNP Clinvar |
1065018 | 864.5 | G | T | PASS | 0/1 | 57 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.60503 | 0.60500 | 0.25026 | 0.88 | 0.10 | None None | None None None None | ABCA7|0.007770288|82.8% | ||||
View | ngs049p_s3 | 19 | rs3752246
dbSNP Clinvar |
1056492 | 1420.89 | G | C | PASS | 0/1 | 115 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.82548 | 0.82550 | 0.12788 | 1.00 | 0.00 | 1.98 | 0.05 0.64766 D | None None None None | ABCA7|0.007770288|82.8% | |||
ABCB1 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 7 | rs1128503
dbSNP Clinvar |
87179601 | 775.94 | A | G | PASS | 0/1 | 55 | SYNONYMOUS_CODING | LOW | None | 0.58387 | 0.58390 | 0.35760 | None None | None None None None | ABCB1|0.831468236|5.08% | ||||||
View | ngs049p_s3 | 7 | rs1045642
dbSNP Clinvar |
87138645 | 484.6 | A | G | PASS | 0/1 | 66 | SYNONYMOUS_CODING | LOW | None | 0.60483 | 0.60480 | 0.42334 | None None | None None None None | ABCB1|0.831468236|5.08% | ||||||
View | ngs049p_s3 | 7 | rs2032582
dbSNP Clinvar |
87160618 | 1527.0 | A | T | PASS | 0/1 | 84 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.04872 | 0.61700 | 0.03 | 0.15 | None None | None None None None | ABCB1|0.831468236|5.08% | |||||
ABCB11 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs144848376
dbSNP Clinvar |
169828390 | 889.13 | G | A | PASS | 0/1 | 70 | SYNONYMOUS_CODING | LOW | None | 0.00100 | 0.00100 | None None | None None None None | ABCB11|0.25846736|30.88% | |||||||
View | ngs049p_s3 | 2 | rs2287616
dbSNP Clinvar |
169847412 | 463.85 | A | G | PASS | 0/1 | 32 | SYNONYMOUS_CODING | LOW | None | 0.06470 | 0.06470 | 0.00175 | None None | None None None None | ABCB11|0.25846736|30.88% | ||||||
View | ngs049p_s3 | 2 | rs3815675
dbSNP Clinvar |
169870855 | 452.33 | A | G | PASS | 0/1 | 40 | SYNONYMOUS_CODING | LOW | None | 0.06310 | 0.06310 | 0.00168 | None None | None None None None | ABCB11|0.25846736|30.88% | ||||||
View | ngs049p_s3 | 2 | rs4148777
dbSNP Clinvar |
169869901 | 593.14 | A | G | PASS | 0/1 | 49 | SYNONYMOUS_CODING | LOW | None | 0.04613 | 0.04613 | 0.04567 | None None | None None None None | ABCB11|0.25846736|30.88% | ||||||
ABCC11 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 16 | rs17822931
dbSNP Clinvar |
48258198 | 631.25 | C | T | PASS | 0/1 | 40 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.30092 | 0.30090 | 0.09800 | 0.00 | 1.00 | None None | None None None None | ABCC11|0.006558104|83.99% | ||||
View | ngs049p_s3 | 16 | rs16945930
dbSNP Clinvar |
48234327 | 1134.75 | C | T | PASS | 0/1 | 102 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.07169 | 0.07169 | 0.01323 | 0.10 | 0.10 | None None | None None None None | ABCC11|0.006558104|83.99% | ||||
ABCC3 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 17 | rs1051640
dbSNP Clinvar |
48768486 | 775.58 | A | G | PASS | 0/1 | 60 | SYNONYMOUS_CODING | LOW | None | 0.10403 | 0.10400 | 0.14639 | None None | None None None None | ABCC3|0.044769991|64.26% | ||||||
View | ngs049p_s3 | 17 | rs2277624
dbSNP Clinvar |
48761105 | 1323.2 | C | T | PASS | 0/1 | 127 | SYNONYMOUS_CODING | LOW | None | 0.28694 | 0.28690 | 0.26465 | None None | None None None None | ABCC3|0.044769991|64.26% | ||||||
ABCC4 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 13 | rs2274406
dbSNP Clinvar |
95858996 | 1113.0 | T | C | PASS | 0/1 | 77 | SYNONYMOUS_CODING | LOW | None | 0.51817 | 0.51820 | 0.43911 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
View | ngs049p_s3 | 13 | rs2274405
dbSNP Clinvar |
95858978 | 1092.09 | T | C | PASS | 0/1 | 76 | SYNONYMOUS_CODING | LOW | None | 0.62600 | 0.62600 | 0.33592 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
View | ngs049p_s3 | 13 | rs1751034
dbSNP Clinvar |
95714976 | 873.87 | C | T | PASS | 0/1 | 63 | SYNONYMOUS_CODING | LOW | None | 0.79433 | 0.79430 | 0.20345 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
View | ngs049p_s3 | 13 | rs899494
dbSNP Clinvar |
95861804 | 1830.53 | A | G | PASS | 0/1 | 145 | SYNONYMOUS_CODING | LOW | None | 0.80751 | 0.80750 | 0.16977 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
View | ngs049p_s3 | 13 | rs1189466
dbSNP Clinvar |
95726541 | 852.47 | A | G | PASS | 0/1 | 94 | SYNONYMOUS_CODING | LOW | None | 0.90355 | 0.90360 | 0.05467 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
View | ngs049p_s3 | 13 | rs1678339
dbSNP Clinvar |
95727780 | 337.39 | T | C | PASS | 0/1 | 28 | SYNONYMOUS_CODING | LOW | None | 0.88778 | 0.88780 | 0.07420 | None None | None None None None | ABCC4|0.142494523|44.07% | ||||||
ABCC8 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 11 | rs1799857
dbSNP Clinvar |
17452492 | 581.31 | G | A | PASS | 0/1 | 57 | SYNONYMOUS_CODING | LOW | None | 0.42991 | 0.42990 | 0.45873 | None None | None None None None | ABCC8|0.967482639|1.79% | ||||||
View | ngs049p_s3 | 11 | rs1048099
dbSNP Clinvar |
17496516 | 1533.44 | A | G | PASS | 0/1 | 136 | SYNONYMOUS_CODING | LOW | None | 0.43930 | 0.43930 | 0.47682 | None None | None None None None | ABCC8|0.967482639|1.79% | ||||||
View | ngs049p_s3 | 11 | rs1805036
dbSNP Clinvar |
17434284 | 801.8 | G | A | PASS | 0/1 | 83 | SYNONYMOUS_CODING | LOW | None | 0.12021 | 0.12020 | 0.14970 | None None | None None None None | ABCC8|0.967482639|1.79% | ||||||
View | ngs049p_s3 | 11 | rs186634115
dbSNP Clinvar |
17427095 | 312.84 | C | T | PASS | 0/1 | 31 | SYNONYMOUS_CODING | LOW | None | 0.00020 | 0.00020 | 2.32 | 0.05 0.62167 D | None None None None | ABCC8|0.967482639|1.79% | ||||||
View | ngs049p_s3 | 11 | rs757110
dbSNP Clinvar |
17418477 | 376.19 | C | A | PASS | 0/1 | 46 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.72644 | 0.72640 | 0.26144 | 0.63 | 0.00 | None None | None None None None | ABCC8|0.967482639|1.79% | ||||
ABCD4 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 14 | rs2301345
dbSNP Clinvar |
74766352 | 520.6 | A | G | PASS | 0/1 | 47 | SYNONYMOUS_CODING | LOW | None | 0.26258 | 0.26260 | 0.29902 | None None | None None None None | ABCD4|0.201608796|36.57% | ||||||
View | ngs049p_s3 | 14 | rs4148077
dbSNP Clinvar |
74759477 | 1437.71 | C | T | PASS | 0/1 | 120 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.27037 | 0.27040 | 0.30747 | 1.00 | 0.00 | None None | None None None None | ABCD4|0.201608796|36.57% | ||||
View | ngs049p_s3 | 14 | rs4148078
dbSNP Clinvar |
74759301 | 844.39 | G | T | PASS | 0/1 | 70 | SYNONYMOUS_CODING | LOW | None | 0.26298 | 0.26300 | 0.29925 | None None | None None None None | ABCD4|0.201608796|36.57% | ||||||
View | ngs049p_s3 | 14 | rs3742801
dbSNP Clinvar |
74759006 | 806.88 | C | T | PASS | 0/1 | 59 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.27037 | 0.27040 | 0.30724 | 0.31 | 0.00 | None None | None None None None | ABCD4|0.201608796|36.57% | ||||
ABCG2 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 4 | rs2231137
dbSNP Clinvar |
89061114 | 839.78 | C | T | PASS | 0/1 | 61 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.15755 | 0.15750 | 0.04552 | 1.00 | 0.00 | None None | None None None None | ABCG2|0.243518394|32.14% | ||||
ABCG5 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs6720173
dbSNP Clinvar |
44040401 | 602.03 | G | C | PASS | 0/1 | 41 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.24002 | 0.24000 | 0.21029 | 0.15 | 0.04 | None None | None None None None | ABCG5|0.20182023|36.56% | ||||
ABCG8 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs4148217
dbSNP Clinvar |
44099433 | 971.32 | C | A | PASS | 0/1 | 72 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.21566 | 0.21570 | 0.21905 | 0.22 | 0.06 | None None | None None None None | ABCG8|0.174377842|39.74% | ||||
View | ngs049p_s3 | 2 | rs4148211
dbSNP Clinvar |
44071743 | 672.8 | A | G | PASS | 0/1 | 46 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.43470 | 0.43470 | 0.32085 | 0.01 | 0.22 | None None | None None None None | ABCG8|0.174377842|39.74% | ||||
ABHD12 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 20 | rs6107027
dbSNP Clinvar |
25288632 | 825.42 | G | A | PASS | 0/1 | 72 | SYNONYMOUS_CODING | LOW | None | 0.33606 | 0.33610 | 0.43465 | None None | None None None None | ABHD12|0.092039068|52.8% | ||||||
View | ngs049p_s3 | 20 | rs10966
dbSNP Clinvar |
25282944 | 1052.05 | A | G | PASS | 0/1 | 97 | SYNONYMOUS_CODING | LOW | None | 0.54153 | 0.54150 | 0.44141 | None None | None None None None | ABHD12|0.092039068|52.8% | ||||||
ACACB |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 12 | rs2878960
dbSNP Clinvar |
109577735 | 1073.27 | C | T | PASS | 0/1 | 77 | SYNONYMOUS_CODING | LOW | None | 0.39776 | 0.39780 | 0.45448 | None None | None None None None | ACACB|0.108212697|49.54% | ||||||
View | ngs049p_s3 | 12 | rs2241220
dbSNP Clinvar |
109675029 | 1123.03 | T | C | PASS | 0/1 | 88 | SYNONYMOUS_CODING | LOW | None | 0.77915 | 0.77920 | 0.19699 | None None | None None None None | ACACB|0.108212697|49.54% | ||||||
View | ngs049p_s3 | 12 | rs7135947
dbSNP Clinvar |
109629457 | 1177.73 | C | T | PASS | 0/1 | 83 | SYNONYMOUS_CODING | LOW | None | 0.38139 | 0.38140 | 0.44503 | None None | None None None None | ACACB|0.108212697|49.54% | ||||||
View | ngs049p_s3 | 12 | rs4766516
dbSNP Clinvar |
109605730 | 1943.79 | C | T | PASS | 0/1 | 159 | SYNONYMOUS_CODING | LOW | None | 0.23163 | 0.23160 | 0.15708 | None None | None None None None | ACACB|0.108212697|49.54% | ||||||
View | ngs049p_s3 | 12 | rs2075260
dbSNP Clinvar |
109696838 | 773.1 | G | A | PASS | 0/1 | 81 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.73882 | 0.73880 | 0.21898 | 1.00 | 0.00 | None None | None None None None | ACACB|0.108212697|49.54% | ||||
ACADL |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs2286963
dbSNP Clinvar |
211060050 | 668.03 | T | G | PASS | 0/1 | 36 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.21106 | 0.21110 | 0.27657 | 0.02 | 0.97 | None None | None None None None | ACADL|0.141427915|44.21% | ||||
ACADS |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 12 | rs3915
dbSNP Clinvar |
121176679 | 1394.57 | C | T | PASS | 0/1 | 120 | SYNONYMOUS_CODING | LOW | None | 0.67312 | 0.67310 | 0.40804 | None None | None None None None | ACADS|0.070436549|57.39% | ||||||
View | ngs049p_s3 | 12 | rs3914
dbSNP Clinvar |
121174899 | 1187.8 | T | C | PASS | 0/1 | 88 | PROTEIN_STRUCTURAL_INTERACTION_LOCUS | HIGH | None | 0.59066 | 0.59070 | 0.49323 | None None | None None None None | ACADS|0.070436549|57.39% | ||||||
View | ngs049p_s3 | 12 | rs76543640
dbSNP Clinvar |
121174938 | 1035.67 | C | T | PASS | 0/1 | 70 | PROTEIN_STRUCTURAL_INTERACTION_LOCUS | HIGH | None | 0.07608 | 0.07608 | 0.00694 | None None | None None None None | ACADS|0.070436549|57.39% | ||||||
View | ngs049p_s3 | 12 | rs2239686
dbSNP Clinvar |
121175221 | 1259.8 | G | A | PASS | 0/1 | 102 | PROTEIN_STRUCTURAL_INTERACTION_LOCUS | HIGH | None | 0.02077 | 0.02077 | 0.00015 | None None | None None None None | ACADS|0.070436549|57.39% | ||||||
ACADSB |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 10 | rs1140591
dbSNP Clinvar |
124800853 | 220.97 | C | T | PASS | 0/1 | 29 | SYNONYMOUS_CODING | LOW | None | 0.22784 | 0.22780 | 0.22813 | None None | None None None None | ACADSB|0.041043879|65.42% | ||||||
ACAN |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 15 | rs34949187
dbSNP Clinvar |
89386652 | 1265.97 | G | A | PASS | 0/1 | 135 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.08207 | 0.08207 | 0.13300 | 0.02 | 0.00 | None None | None None None None | ACAN|0.017538305|75.58% | ||||
View | ngs049p_s3 | 15 | rs1126823
dbSNP Clinvar |
89417238 | 628.81 | A | G | PASS | 0/1 | 64 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.40675 | 0.40670 | 0.39531 | 1.00 | 0.00 | None None | None None None None | ACAN|0.017538305|75.58% | ||||
ACAT1 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 11 | rs3741056
dbSNP Clinvar |
107992346 | 623.98 | G | C | PASS | 0/1 | 59 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.33187 | 0.33190 | 0.20971 | 0.02 | 0.14 | None None | None None None None | ACAT1|0.138678583|44.58% | ||||
ACBD5 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 10 | rs10764690
dbSNP Clinvar |
27508758 | 900.44 | T | C | PASS | 0/1 | 45 | SYNONYMOUS_CODING | LOW | None | 0.31789 | 0.31790 | 0.39382 | None None | None None None None | ACBD5|0.116795914|47.98% | ||||||
ACOX1 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 17 | rs3744032
dbSNP Clinvar |
73969835 | 602.28 | C | T | PASS | 0/1 | 54 | None | None | None | 0.06490 | 0.06490 | 0.04475 | 0.32 | 0.00 | None None | None None None None | ACOX1|0.181440529|38.86% | ||||
ACSF3 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 16 | rs7201122
dbSNP Clinvar |
89167140 | 354.8 | G | C | PASS | 0/1 | 35 | SYNONYMOUS_CODING | LOW | None | 0.84924 | 0.84920 | 0.08482 | None None | None None None None | ACSF3|0.012049699|79.2% | ||||||
View | ngs049p_s3 | 16 | rs75591977
dbSNP Clinvar |
89180765 | 2080.16 | A | T | PASS | 0/1 | 169 | SYNONYMOUS_CODING | LOW | None | 0.04992 | 0.04992 | 0.01077 | None None | None None None None | ACSF3|0.012049699|79.2% | ||||||
View | ngs049p_s3 | 16 | rs3743979
dbSNP Clinvar |
89180883 | 2350.15 | G | A | PASS | 0/1 | 162 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.62959 | 0.62960 | 0.29186 | 0.10 | 0.63 | None None | None None None None | ACSF3|0.012049699|79.2% | ||||
ACSL5 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 10 | rs3736946
dbSNP Clinvar |
114169276 | 1116.47 | A | G | PASS | 0/1 | 70 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.06949 | 0.06949 | 0.08804 | 1.00 | 0.00 | None None | None None None None | ACSL5|0.090893632|53.06% | ||||
View | ngs049p_s3 | 10 | rs11195943
dbSNP Clinvar |
114154815 | 667.16 | C | T | PASS | 0/1 | 59 | SYNONYMOUS_CODING | LOW | None | 0.06969 | 0.06969 | 0.08781 | None None | None None None None | ACSL5|0.090893632|53.06% | ||||||
ACSM2B |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 16 | rs78729855
dbSNP Clinvar |
20576048 | 1130.04 | C | A | PASS | 0/1 | 105 | SYNONYMOUS_CODING | LOW | None | 0.26518 | 0.26520 | 0.14797 | None None | None None None None | ACSM2B|0.005001118|85.81% | ||||||
View | ngs049p_s3 | 16 | rs77922582
dbSNP Clinvar |
20554248 | 1014.98 | G | A | PASS | 0/1 | 107 | SYNONYMOUS_CODING | LOW | None | 0.09864 | 0.09864 | 0.05424 | None None | None None None None | ACSM2B|0.005001118|85.81% | ||||||
View | ngs049p_s3 | 16 | rs77863699
dbSNP Clinvar |
20563528 | 313.5 | T | C | PASS | 0/1 | 29 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.15076 | 0.15080 | 0.11114 | 0.59 | 0.01 | None None | None None None None | ACSM2B|0.005001118|85.81% | ||||
ACTN2 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 1 | rs12063382
dbSNP Clinvar |
236925844 | 1022.06 | G | A | PASS | 0/1 | 77 | SYNONYMOUS_CODING | LOW | None | 0.19609 | 0.19610 | 0.15570 | None None | None None None None | ACTN2|0.55570405|13.49% | ||||||
ACTN3 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 11 | rs540874
dbSNP Clinvar |
66329732 | 1385.99 | A | G | PASS | 0/1 | 107 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.58307 | 0.58310 | 0.37179 | 1.00 | 0.00 | None None | None None None None | None | ||||
View | ngs049p_s3 | 11 | rs1671064
dbSNP Clinvar |
66327673 | 1441.47 | G | A | PASS | 0/1 | 97 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.58646 | 0.58650 | 0.36660 | 1.00 | 0.00 | None None | None None None None | None | ||||
View | ngs049p_s3 | 11 | rs1815739
dbSNP Clinvar |
66328095 | 657.24 | T | C | PASS | 0/1 | 43 | STOP_LOST | HIGH | None | 0.59924 | 0.59920 | 0.35908 | None None | None None None None | None | ||||||
View | ngs049p_s3 | 11 | rs618838
dbSNP Clinvar |
66328719 | 581.61 | T | C | PASS | 0/1 | 48 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.60024 | 0.60020 | 0.36450 | 1.00 | 0.00 | None None | None None None None | None | ||||
ADA |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 20 | rs244076
dbSNP Clinvar |
43252915 | 1391.21 | T | C | PASS | 0/1 | 98 | SYNONYMOUS_CODING | LOW | None | 0.26578 | 0.26580 | 0.24858 | None None | None None None None | ADA|0.574821556|12.82% | ||||||
ADAM12 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 10 | rs75316572
dbSNP Clinvar |
127967532 | 979.03 | C | T | PASS | 0/1 | 70 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.03195 | 0.03195 | 0.01162 | 0.47 | 0.02 | None None | None None None None | ADAM12|0.075293986|56.23% | ||||
ADAM17 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 2 | rs201360504
dbSNP Clinvar |
9630435 | 1015.07 | G | A | PASS | 0/1 | 104 | SYNONYMOUS_CODING | LOW | None | 0.00519 | 0.00519 | None None | None None None None | IAH1|0.013171545|78.39%,ADAM17|0.398835803|20.86% | |||||||
ADAM19 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 5 | rs1422795
dbSNP Clinvar |
156936364 | 933.11 | T | C | PASS | 0/1 | 89 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.41454 | 0.41450 | 0.42873 | 0.23 | 0.03 | None None | None None None None | ADAM19|0.121857186|47.16% | ||||
ADAM33 |
|||||||||||||||||||||||||
Omim - GeneCards - NCBI | |||||||||||||||||||||||||
Options | Individual |
Chr |
RsId |
Pos |
Qual |
Ref |
Alt |
Filter |
Gen |
Read Depth | Effect | Impact | Func Class | 1kgenomes | dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
View | ngs049p_s3 | 20 | rs41453444
dbSNP Clinvar |
3652298 | 1606.88 | A | T | PASS | 0/1 | 147 | NON_SYNONYMOUS_CODING | MODERATE | None | 0.00579 | 0.00579 | 0.02 | 0.93 | None None | None None None None | ADAM33|0.021575059|73.4% | |||||
View | ngs049p_s3 | 20 | rs2271511
dbSNP Clinvar |
3654433 | 954.6 | C | T | PASS | 0/1 | 83 | SYNONYMOUS_CODING | LOW | None | 0.27536 | 0.27540 | 0.21291 | None None | None None None None | ADAM33|0.021575059|73.4% |