SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

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,

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

Export to: CSV

A4GALT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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%