Genes:
A2M, A4GALT, A4GNT, AADACL2, AARS2, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA3, ABCB1, ABCB11, ABCC1, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG8, ABL1, AC135048.1, AC137932.1, ACACB, ACAD10, ACAD11, ACAN, ACAT1, ACAT2, ACCS, ACHE, ACOX1, ACP5, ACSF3, ACVR1, ADAM12, ADAM19, ADAM7, ADAMTS1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL3, ADAMTSL4, ADAR, ADCY3, ADD1, ADH1C, ADH4, ADH7, ADM, ADRA1A, ADRB2, AFF3, AGA, AGGF1, AGL, AGT, AGXT2, AHI1, AHR, AHSG, AIP, AIPL1, AK7, AKAP9, AKR1C3, AKR1C4, AKR7A2, ALAD, ALDH16A1, ALDH1A2, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX12, ALOXE3, ALS2, ALS2CL, AMACR, AMH, ANGPTL4, ANGPTL5, ANK3, ANKK1, ANKRD11, ANKRD26, ANKS1A, ANKS6, ANO10, ANO5, ANO7, ANTXR2, AP000350.4, AP3B1, AP4E1, APAF1, APBA2, APBB2, APC, APEX1, APOA4, APOA5, APOB, APOBEC1, APOBEC3H, APOC4, APOL1, APOL3, APP, AQP1, AQP7, AR, ARHGAP31, ARHGAP6, ARHGAP9, ARID1A, ARL13B, ARMS2, ARSE, AS3MT, ASAH1, ASB10, ASCC3, ASCL1, ASNS, ASPM, ASPN, ASPRV1, ASXL1, ATG16L1, ATM, ATP10A, ATP10D, ATP1A3, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATRNL1, ATRX, ATXN1, ATXN2, ATXN3, ATXN3L, ATXN7, AUTS2, AXIN2, AXL, B3GALT5, B3GALTL, B3GAT2, B3GNT3, B3GNT7, B3GNT8, B4GALNT2, B4GALNT3, B4GALNT4, B4GALT4, B9D1, B9D2, BAAT, BANK1, BARD1, BBS10, BBS12, BBS2, BBS4, BCAM, BCKDHA, BCL2L2-PABPN1, BCORL1, BCR, BEST1, BGN, BHLHE41, BICC1, BLMH, BLVRA, BMP4, BRCA1, BRCA2, BRIP1, BRSK2, BRWD1, BRWD3, BUB1B, C1R, C21orf91, C2orf71, C5, C6, C7, C8A, C8B, C9orf66, CABP2, CACNA1A, CACNA1E, CACNA1H, CACNA1S, CACNA2D4, CADM1, CALCA, CALCR, CALCRL, CALHM1, CAPN10, CARD14, CARD9, CASC5, CASP10, CASP12, CASP8, CASR, CATSPER1, CBR3, CBX4, CC2D1A, CCDC107, CCDC11, CCDC14, CCDC39, CCDC50, CCDC66, CCDC78, CCDC88C, CCM2, CD109, CD177, CD19, CD200, CD207, CD209, CD27, CD3G, CD44, CD5, CD86, CDC42BPB, CDH13, CDH15, CDH23, CDH3, CDK5RAP2, CDKN1A, CDKN1B, CDON, CDT1, CDX2, CELSR1, CELSR2, CENPJ, CEP135, CEP164, CEP290, CETP, CFH, CFHR5, CFI, CHAT, CHD1L, CHD3, CHGA, CHIA, CHIT1, CHL1, CHPF, CHRNA2, CHRNA3, CHRNA5, CHRNA9, CHRNB1, CHRND, CHSY1, CHSY3, CHUK, CIITA, CILP, CLCN1, CLCN2, CLCN6, CLCN7, CLCNKA, CLCNKB, CLIP2, CLN3, CLTCL1, CMPK1, CNGB1, CNGB3, CNKSR1, CNKSR2, CNOT4, CNPY3, CNR2, CNTF, CNTNAP4, COCH, COG1, COG2, COG3, COG4, COG6, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A6, COL5A1, COL6A1, COL6A2, COL6A3, COL9A3, COQ2, COQ6, CORIN, COX4I2, CP, CPB2, CPOX, CPS1, CPT2, CPZ, CR1, CR2, CRELD1, CRYBB3, CRYGB, CSF1, CSGALNACT1, CSH1, CSMD1, CSMD3, CSTA, CTC1, CTDP1, CTGF, CTH, CTNNA3, CTNS, CTSA, CTSC, CUBN, CUL3, CUL7, CX3CR1, CXCL5, CYBA, CYBRD1, CYFIP1, CYP1B1, CYP21A2, CYP2C8, CYP2F1, CYP3A7, CYP4F12, CYP4F2, CYP4F3, CYP4V2, CYS1, D2HGDH, DAG1, DARC, DBT, DCC, DDC, DDHD1, DDOST, DDX25, DEF6, DFNB31, DFNB59, DGCR2, DGKD, DHDDS, DHODH, DHTKD1, DHX37, DIAPH1, DIAPH3, DICER1, DIP2A, DISP1, DKC1, DKK3, DLC1, DLEC1, DLL3, DLX6, DMD, DMGDH, DMXL1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJC30, DNASE1, DNMT1, DOC2A, DOCK4, DOCK6, DOCK8, DOK7, DOT1L, DPAGT1, DPP6, DPYD, DRD3, DRD4, DSG1, DSG3, DSG4, DSPP, DST, DUOX2, DUOXA2, DYNAP, DYNC2H1, E2F4, EARS2, ECE2, ECM1, EDA2R, EDAR, EDARADD, EDN1, EFCAB5, EFEMP2, EFHC1, EGF, EIF2AK3, EIF2B5, EIF4G1, ELAC2, ELN, ELOVL4, ELP2, EME1, EMG1, EN2, EOMES, EP300, EPCAM, EPHA3, EPHA5, EPHB6, EPHX1, EPM2A, ERAP1, ERAP2, ERCC5, ERCC6-PGBD3, ERMAP, ESPN, ETFB, ETFDH, EVC, EVI5, EXO1, EXO5, EXPH5, EYA4, EYS, EZH2, F12, F13A1, F13B, F2RL1, F5, F9, FAAH, FABP2, FAH, FAM161A, FAM205A, FAM20A, FAM20C, FAM83H, FANCA, FANCE, FANCI, FBLN1, FBN1, FBN2, FBP1, FBXL6, FBXO11, FBXO7, FFAR1, FFAR4, FGA, FGB, FGFR4, FGFRL1, FHIT, FIG4, FIGLA, FLG, FLNB, FLNC, FLT3, FLT4, FMN1, FMN2, FMO3, FN1, FOXA1, FOXC1, FOXE1, FOXF2, FPR1, FRAS1, FREM1, FREM2, FREM3, FRK, FRMD7, FRY, FSCB, FUT2, FUT3, FUT6, FYCO1, FZD6, G6PC2, GAA, GABRR2, GAL3ST2, GAL3ST4, GALC, GALNT14, GALNT8, GALNT9, GARS, GAS2L2, GATA2, GATA6, GBE1, GC, GCKR, GCNT1, GCNT2, GDF1, GDF5, GDF5OS, GFM1, GGCX, GHR, GIGYF2, GIMAP8, GJA3, GJC2, GLB1, GLI2, GLI3, GLIS3, GLP1R, GM2A, GNPAT, GNPTAB, GOLGA3, GOLGA5, GON4L, GORAB, GP1BA, GP6, GPC3, GPC4, GPC6, GPD2, GPR1, GPR98, GPSM2, GPT, GRHL1, GRIK2, GRIN3A, GRIP1, GRK4, GRM1, GRM7, GRXCR1, GSTA2, GSTO1, GSTZ1, GTF2I, GTF2IRD1, GUCY2C, GUCY2D, GUCY2F, GUSB, GYG2, GYPA, GYPE, GYS2, HADH, HADHB, HAL, HAVCR1, HCN1, HCN2, HCRT, HCRTR2, HDGFRP2, HDLBP, HEPH, HEXA, HEXB, HGD, HIBCH, HLX, HMCN1, HNF1A, HOXA1, HOXA13, HOXA4, HOXB1, HOXD4, HPD, HPS4, HPSE2, HRG, HSD17B4, HSD3B1, HSD3B7, HSP90AA1, HSPG2, HTR3B, HTRA1, HTT, HYDIN, HYLS1, ID3, ID4, IDH3B, IDUA, IFIH1, IFITM3, IFITM5, IFNAR2, IFT140, IFT43, IFT88, IGF2R, IGFBP7, IGHMBP2, IKBKAP, IL10RA, IL10RB, IL12RB1, IL13, IL23R, IL31RA, IL6R, IL6ST, IL7R, IL9R, ILDR1, IMPG2, ING1, INMT, INPP5B, INPP5D, INSL3, INSR, IQCB1, IQGAP2, IQGAP3, IQSEC2, IRAK3, IRS1, IRS4, IRX4, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGA9, ITGAM, ITGB2, ITGB4, IYD, JAG2, JMJD1C, JUP, KAL1, KALRN, KANK1, KARS, KATNAL2, KBTBD13, KCNC3, KCNE1, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ13, KCNJ5, KCNMB1, KCNN2, KCNN3, KCNQ2, KCNQ4, KCNS1, KDM3A, KDM6A, KDM6B, KERA, KHDC3L, KIAA0319, KIAA1033, KIAA1279, KIAA1462, KIF11, KIF17, KIF1A, KIF27, KIF7, KISS1R, KLF1, KLF10, KLF11, KLK1, KLK4, KLKB1, KMT2D, KNG1, KPNA1, KRT10, KRT13, KRT14, KRT3, KRT37, KRT38, KRT4, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC3, LBR, LCA5, LCE5A, LCT, LDLRAP1, LECT2, LEPR, LHCGR, LIG1, LINS, LIPC, LIPI, LIPN, LLGL1, LMAN1, LMBRD1, LMF1, LMTK3, LOX, LOXHD1, LOXL1, LPA, LPIN1, LPIN3, LPL, LRBA, LRIT3, LRP1, LRP2, LRP4, LRP5, LRP8, LRRC6, LRRK2, LRRTM1, LRSAM1, LTBP1, LTBP4, LTN1, LY96, LYST, MACROD2, MAD1L1, MAFA, MAML2, MAMLD1, MAN1B1, MAN2A1, MAN2B1, MANBA, MAP3K1, MAP3K15, MAP6, MARVELD2, MASP2, MBD3, MCC, MCCC1, MCEE, MCHR1, MCM4, MCM9, MCPH1, MDN1, MECP2, MED12, MED17, MEF2A, MEFV, MEGF11, MEN1, MERTK, MESP2, MFGE8, MFRP, MGAT1, MGAT5B, MKKS, MLC1, MLH1, MLH3, MLPH, MMP14, MMP20, MMP3, MMP8, MMP9, MNX1, MOCOS, MREG, MSH3, MSH6, MST1R, MSX2, MTHFD1, MTHFR, MTPAP, MTRR, MTSS1, MTTP, MUC5B, MUC7, MUS81, MUSK, MUT, MYBPC1, MYBPC3, MYH11, MYH14, MYH3, MYH6, MYH7, MYH8, MYLK, MYO1A, MYO1C, MYO3A, MYO5A, MYO5B, MYO7A, MYO7B, MYO9B, MYOC, MYOM1, MYOT, MYPN, MYT1L, NAGLU, NARS2, NAT2, NAV2, NBAS, NBEA, NBEAL2, NBN, NCAPD2, NCF4, NCOA4, NDOR1, NDUFA11, NDUFAF1, NDUFS2, NDUFS7, NEB, NEBL, NEDD4, NEFH, NEFM, NEU2, NEUROD1, NEUROG3, NEXN, NFATC4, NGF, NHLRC1, NHS, NIN, NINJ1, NIPAL4, NIPBL, NIPSNAP3A, NKX2-5, NLRP1, NLRP14, NLRP2, NLRP7, NLRX1, NME8, NMU, NOBOX, NOD2, NODAL, NOS1, NOTCH2, NOTCH3, NPAS2, NPAT, NPC1, NPHP4, NPHS1, NPSR1, NQO1, NR1H2, NR3C1, NR3C2, NR4A3, NRCAM, NRG1, NRP2, NRXN3, NSD1, NSUN7, NT5E, NUP214, NUP62, NXNL1, OAS1, OBSCN, OBSL1, OCA2, OLFM2, OPA1, OPRM1, OPTN, OR10X1, OR13G1, OR1B1, OR51G1, OR52H1, OR52N4, OR5H6, OR8K3, ORAI1, ORC4, OTC, OTOA, OTOF, OTOG, OTOGL, OVCH2, P2RX7, P2RY4, PADI4, PAH, PALM2-AKAP2, PANK2, PARD3B, PARK2, PARL, PARP1, PASK, PAX4, PCDH18, PCDHA1, PCDHA10, PCDHB4, PCK2, PCLO, PCM1, PCMT1, PCNT, PCSK5, PCSK9, PDE11A, PDE6A, PDE6B, PDE6C, PDHX, PDX1, PEPD, PER1, PEX10, PEX16, PEX2, PEX6, PFKM, PGM1, PGR, PHF2, PHF8, PHIP, PHLPP2, PIGN, PIGR, PIGZ, PIK3R2, PIKFYVE, PITPNM3, PKD1, PKD2, PKHD1, PLA2G4A, PLA2G7, PLAU, PLCB4, PLEC, PLEKHG5, PLIN1, PML, PMS2, PNP, PNPLA1, PNPLA2, PNPLA6, PNPT1, POF1B, POLG, POMGNT1, POMT1, PON1, PON2, POP1, POSTN, POU3F4, POU6F2, PPARGC1B, PPP1R17, PPP1R1A, PPP1R3A, PRB1, PRB3, PRB4, PRCC, PRDM16, PRDM9, PREPL, PRG4, PRKCA, PRKCSH, PRMT3, PRND, PROCR, PRODH, PROK1, PROP1, PROZ, PRPH2, PRSS12, PRSS56, PRX, PSTPIP2, PTCH1, PTCHD3, PTGS1, PTPN12, PTPN14, PTPN22, PTPRJ, PTPRK, PTPRN2, PTPRQ, PTPRT, PVRL4, PYY, PZP, RAB3GAP1, RAB3GAP2, RABGGTA, RABL6, RAD21L1, RAD50, RAD51D, RAG1, RAI1, RASA1, RAX, RB1CC1, RBL2, RBM20, RBMXL2, RBP3, RDH8, RECQL4, RFX5, RFX8, RGMA, RGS9BP, RHBDF2, RHPN2, RIN2, RIOK2, RIPK4, RNASEH2A, RNF168, RNF212, RNF213, ROBO1, ROBO3, ROCK1, ROM1, ROR2, ROS1, RP1, RP1L1, RPGR, RPGRIP1, RPL10, RPS6KA3, RPS6KL1, RTTN, RUNX2, RUNX3, RYK, RYR1, SAA1, SAG, SAGE1, SALL1, SALL4, SAMD9, SARDH, SATL1, SCARB1, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN3A, SCN4A, SCN5A, SCN7A, SCN9A, SCNN1A, SCO2, SCRIB, SCUBE2, SDC3, SDHAF1, SEC23A, SELL, SELPLG, SEMA6D, SEMG1, SEPN1, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB5, SERPINB6, SERPINF1, SERPINF2, SETBP1, SETD2, SETX, SEZ6, SEZ6L2, SFTPA1, SFTPA2, SFTPB, SFTPC, SGCD, SGCG, SGSH, SH2B3, SHANK3, SHROOM3, SHROOM4, SI, SIGLEC12, SIGLEC14, SIM1, SIPA1, SIX5, SIX6, SKI, SLC10A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC1A5, SLC20A2, SLC22A1, SLC22A18, SLC22A2, SLC24A1, SLC25A12, SLC25A15, SLC26A1, SLC26A10, SLC26A2, SLC28A1, SLC28A2, SLC29A3, SLC2A2, SLC2A9, SLC30A8, SLC33A1, SLC34A2, SLC34A3, SLC35G2, SLC39A13, SLC39A4, SLC3A1, SLC44A2, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC6A12, SLC6A18, SLC6A19, SLC6A2, SLC6A5, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLCO5A1, SLFN5, SLIT3, SLITRK5, SLX4, SMARCA2, SMCHD1, SMG1, SMPD1, SNTG2, SOBP, SOD2, SOD3, SOHLH1, SORL1, SP110, SP8, SPAG17, SPATA21, SPATA7, SPECC1, SPECC1L, SPEF2, SPG11, SPINK5, SPRN, SPRY2, SPTA1, SPTB, SPTBN2, SPTBN5, SREBF2, SRPX, SSTR5, SSX7, ST3GAL3, ST3GAL5, ST5, ST6GALNAC3, ST6GALNAC5, ST8SIA6, STIL, STK11IP, STK36, STK39, STK4, STOX1, STRC, STXBP2, SUCLA2, SULT1A1, SUMO4, SUV420H1, SV2B, SYNE1, SYNE2, SYNGR1, SYNM, SYTL3, TAAR9, TAC3, TAF1C, TAF1L, TAF2, TAS1R1, TAS1R3, TAS2R16, TAS2R38, TAT, TBC1D4, TBP, TBXA2R, TBXAS1, TCF3, TCF4, TCN1, TCN2, TCOF1, TCTE1, TDRD7, TECPR2, TECTA, TEK, TENC1, TET1, TET2, TEX14, TF, TFRC, TG, TGFB1, TGFBR1, TGM6, THSD7A, TICAM1, TINAG, TJP2, TLR1, TLR5, TLR6, TM4SF19, TMC6, TMEM135, TMEM173, TMEM216, TMEM237, TMEM256-PLSCR3, TMEM67, TMEM8A, TMEM99, TMIE, TMPO, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF1B, TNFSF14, TNR, TNXB, TP53, TP53BP1, TPCN2, TPO, TPRN, TPTE, TRAF3, TRAF3IP2, TRDN, TREH, TRERF1, TREX1, TRIM33, TRIOBP, TRIP11, TRPM1, TRPM2, TRPM3, TRPM7, TRPV1, TRPV3, TRPV5, TSC1, TSEN34, TSEN54, TSHB, TSHR, TSPO, TSPYL1, TSSC4, TTC21B, TTN, TUBGCP6, TULP1, TXNRD2, TYR, TYRO3, UBR7, UCHL1, UCP1, UGGT2, UGT1A7, UGT2A1, UGT2B4, UGT2B7, UGT8, ULK4, UMPS, UNC5C, UNC80, UNC93A, UNC93B1, UPK3A, UQCRFS1, USH1C, USH1G, USH2A, UTRN, UVSSA, VCAN, VCX3A, VDR, VNN1, VPS13B, VPS33B, VPS35, VWF, WAS, WASF3, WDR13, WDR35, WDR62, WDR65, WDR72, WDR81, WFS1, WIPF1, WNK1, WRAP53, WRN, WWC1, WWOX, WWTR1, XBP1, XG, XIAP, XRCC1, XRCC3, XYLT1, XYLT2, YBX2, YY1, ZAN, ZBTB24, ZBTB40, ZFAT, ZFHX3, ZFP36L1, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF419, ZNF423, ZNF469, ZNF592, ZNF750, ZNF80,
A2M, A4GALT, A4GNT, AADACL2, AARS2, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA3, ABCB1, ABCB11, ABCC1, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG8, ABL1, AC135048.1, AC137932.1, ACACB, ACAD10, ACAD11, ACAN, ACAT1, ACAT2, ACCS, ACHE, ACOX1, ACP5, ACSF3, ACVR1, ADAM12, ADAM19, ADAM7, ADAMTS1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL3, ADAMTSL4, ADAR, ADCY3, ADD1, ADH1C, ADH4, ADH7, ADM, ADRA1A, ADRB2, AFF3, AGA, AGGF1, AGL, AGT, AGXT2, AHI1, AHR, AHSG, AIP, AIPL1, AK7, AKAP9, AKR1C3, AKR1C4, AKR7A2, ALAD, ALDH16A1, ALDH1A2, ALG12, ALG2, ALG8, ALK, ALMS1, ALOX12, ALOXE3, ALS2, ALS2CL, AMACR, AMH, ANGPTL4, ANGPTL5, ANK3, ANKK1, ANKRD11, ANKRD26, ANKS1A, ANKS6, ANO10, ANO5, ANO7, ANTXR2, AP000350.4, AP3B1, AP4E1, APAF1, APBA2, APBB2, APC, APEX1, APOA4, APOA5, APOB, APOBEC1, APOBEC3H, APOC4, APOL1, APOL3, APP, AQP1, AQP7, AR, ARHGAP31, ARHGAP6, ARHGAP9, ARID1A, ARL13B, ARMS2, ARSE, AS3MT, ASAH1, ASB10, ASCC3, ASCL1, ASNS, ASPM, ASPN, ASPRV1, ASXL1, ATG16L1, ATM, ATP10A, ATP10D, ATP1A3, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATRNL1, ATRX, ATXN1, ATXN2, ATXN3, ATXN3L, ATXN7, AUTS2, AXIN2, AXL, B3GALT5, B3GALTL, B3GAT2, B3GNT3, B3GNT7, B3GNT8, B4GALNT2, B4GALNT3, B4GALNT4, B4GALT4, B9D1, B9D2, BAAT, BANK1, BARD1, BBS10, BBS12, BBS2, BBS4, BCAM, BCKDHA, BCL2L2-PABPN1, BCORL1, BCR, BEST1, BGN, BHLHE41, BICC1, BLMH, BLVRA, BMP4, BRCA1, BRCA2, BRIP1, BRSK2, BRWD1, BRWD3, BUB1B, C1R, C21orf91, C2orf71, C5, C6, C7, C8A, C8B, C9orf66, CABP2, CACNA1A, CACNA1E, CACNA1H, CACNA1S, CACNA2D4, CADM1, CALCA, CALCR, CALCRL, CALHM1, CAPN10, CARD14, CARD9, CASC5, CASP10, CASP12, CASP8, CASR, CATSPER1, CBR3, CBX4, CC2D1A, CCDC107, CCDC11, CCDC14, CCDC39, CCDC50, CCDC66, CCDC78, CCDC88C, CCM2, CD109, CD177, CD19, CD200, CD207, CD209, CD27, CD3G, CD44, CD5, CD86, CDC42BPB, CDH13, CDH15, CDH23, CDH3, CDK5RAP2, CDKN1A, CDKN1B, CDON, CDT1, CDX2, CELSR1, CELSR2, CENPJ, CEP135, CEP164, CEP290, CETP, CFH, CFHR5, CFI, CHAT, CHD1L, CHD3, CHGA, CHIA, CHIT1, CHL1, CHPF, CHRNA2, CHRNA3, CHRNA5, CHRNA9, CHRNB1, CHRND, CHSY1, CHSY3, CHUK, CIITA, CILP, CLCN1, CLCN2, CLCN6, CLCN7, CLCNKA, CLCNKB, CLIP2, CLN3, CLTCL1, CMPK1, CNGB1, CNGB3, CNKSR1, CNKSR2, CNOT4, CNPY3, CNR2, CNTF, CNTNAP4, COCH, COG1, COG2, COG3, COG4, COG6, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A6, COL5A1, COL6A1, COL6A2, COL6A3, COL9A3, COQ2, COQ6, CORIN, COX4I2, CP, CPB2, CPOX, CPS1, CPT2, CPZ, CR1, CR2, CRELD1, CRYBB3, CRYGB, CSF1, CSGALNACT1, CSH1, CSMD1, CSMD3, CSTA, CTC1, CTDP1, CTGF, CTH, CTNNA3, CTNS, CTSA, CTSC, CUBN, CUL3, CUL7, CX3CR1, CXCL5, CYBA, CYBRD1, CYFIP1, CYP1B1, CYP21A2, CYP2C8, CYP2F1, CYP3A7, CYP4F12, CYP4F2, CYP4F3, CYP4V2, CYS1, D2HGDH, DAG1, DARC, DBT, DCC, DDC, DDHD1, DDOST, DDX25, DEF6, DFNB31, DFNB59, DGCR2, DGKD, DHDDS, DHODH, DHTKD1, DHX37, DIAPH1, DIAPH3, DICER1, DIP2A, DISP1, DKC1, DKK3, DLC1, DLEC1, DLL3, DLX6, DMD, DMGDH, DMXL1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJC30, DNASE1, DNMT1, DOC2A, DOCK4, DOCK6, DOCK8, DOK7, DOT1L, DPAGT1, DPP6, DPYD, DRD3, DRD4, DSG1, DSG3, DSG4, DSPP, DST, DUOX2, DUOXA2, DYNAP, DYNC2H1, E2F4, EARS2, ECE2, ECM1, EDA2R, EDAR, EDARADD, EDN1, EFCAB5, EFEMP2, EFHC1, EGF, EIF2AK3, EIF2B5, EIF4G1, ELAC2, ELN, ELOVL4, ELP2, EME1, EMG1, EN2, EOMES, EP300, EPCAM, EPHA3, EPHA5, EPHB6, EPHX1, EPM2A, ERAP1, ERAP2, ERCC5, ERCC6-PGBD3, ERMAP, ESPN, ETFB, ETFDH, EVC, EVI5, EXO1, EXO5, EXPH5, EYA4, EYS, EZH2, F12, F13A1, F13B, F2RL1, F5, F9, FAAH, FABP2, FAH, FAM161A, FAM205A, FAM20A, FAM20C, FAM83H, FANCA, FANCE, FANCI, FBLN1, FBN1, FBN2, FBP1, FBXL6, FBXO11, FBXO7, FFAR1, FFAR4, FGA, FGB, FGFR4, FGFRL1, FHIT, FIG4, FIGLA, FLG, FLNB, FLNC, FLT3, FLT4, FMN1, FMN2, FMO3, FN1, FOXA1, FOXC1, FOXE1, FOXF2, FPR1, FRAS1, FREM1, FREM2, FREM3, FRK, FRMD7, FRY, FSCB, FUT2, FUT3, FUT6, FYCO1, FZD6, G6PC2, GAA, GABRR2, GAL3ST2, GAL3ST4, GALC, GALNT14, GALNT8, GALNT9, GARS, GAS2L2, GATA2, GATA6, GBE1, GC, GCKR, GCNT1, GCNT2, GDF1, GDF5, GDF5OS, GFM1, GGCX, GHR, GIGYF2, GIMAP8, GJA3, GJC2, GLB1, GLI2, GLI3, GLIS3, GLP1R, GM2A, GNPAT, GNPTAB, GOLGA3, GOLGA5, GON4L, GORAB, GP1BA, GP6, GPC3, GPC4, GPC6, GPD2, GPR1, GPR98, GPSM2, GPT, GRHL1, GRIK2, GRIN3A, GRIP1, GRK4, GRM1, GRM7, GRXCR1, GSTA2, GSTO1, GSTZ1, GTF2I, GTF2IRD1, GUCY2C, GUCY2D, GUCY2F, GUSB, GYG2, GYPA, GYPE, GYS2, HADH, HADHB, HAL, HAVCR1, HCN1, HCN2, HCRT, HCRTR2, HDGFRP2, HDLBP, HEPH, HEXA, HEXB, HGD, HIBCH, HLX, HMCN1, HNF1A, HOXA1, HOXA13, HOXA4, HOXB1, HOXD4, HPD, HPS4, HPSE2, HRG, HSD17B4, HSD3B1, HSD3B7, HSP90AA1, HSPG2, HTR3B, HTRA1, HTT, HYDIN, HYLS1, ID3, ID4, IDH3B, IDUA, IFIH1, IFITM3, IFITM5, IFNAR2, IFT140, IFT43, IFT88, IGF2R, IGFBP7, IGHMBP2, IKBKAP, IL10RA, IL10RB, IL12RB1, IL13, IL23R, IL31RA, IL6R, IL6ST, IL7R, IL9R, ILDR1, IMPG2, ING1, INMT, INPP5B, INPP5D, INSL3, INSR, IQCB1, IQGAP2, IQGAP3, IQSEC2, IRAK3, IRS1, IRS4, IRX4, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGA9, ITGAM, ITGB2, ITGB4, IYD, JAG2, JMJD1C, JUP, KAL1, KALRN, KANK1, KARS, KATNAL2, KBTBD13, KCNC3, KCNE1, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ13, KCNJ5, KCNMB1, KCNN2, KCNN3, KCNQ2, KCNQ4, KCNS1, KDM3A, KDM6A, KDM6B, KERA, KHDC3L, KIAA0319, KIAA1033, KIAA1279, KIAA1462, KIF11, KIF17, KIF1A, KIF27, KIF7, KISS1R, KLF1, KLF10, KLF11, KLK1, KLK4, KLKB1, KMT2D, KNG1, KPNA1, KRT10, KRT13, KRT14, KRT3, KRT37, KRT38, KRT4, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC3, LBR, LCA5, LCE5A, LCT, LDLRAP1, LECT2, LEPR, LHCGR, LIG1, LINS, LIPC, LIPI, LIPN, LLGL1, LMAN1, LMBRD1, LMF1, LMTK3, LOX, LOXHD1, LOXL1, LPA, LPIN1, LPIN3, LPL, LRBA, LRIT3, LRP1, LRP2, LRP4, LRP5, LRP8, LRRC6, LRRK2, LRRTM1, LRSAM1, LTBP1, LTBP4, LTN1, LY96, LYST, MACROD2, MAD1L1, MAFA, MAML2, MAMLD1, MAN1B1, MAN2A1, MAN2B1, MANBA, MAP3K1, MAP3K15, MAP6, MARVELD2, MASP2, MBD3, MCC, MCCC1, MCEE, MCHR1, MCM4, MCM9, MCPH1, MDN1, MECP2, MED12, MED17, MEF2A, MEFV, MEGF11, MEN1, MERTK, MESP2, MFGE8, MFRP, MGAT1, MGAT5B, MKKS, MLC1, MLH1, MLH3, MLPH, MMP14, MMP20, MMP3, MMP8, MMP9, MNX1, MOCOS, MREG, MSH3, MSH6, MST1R, MSX2, MTHFD1, MTHFR, MTPAP, MTRR, MTSS1, MTTP, MUC5B, MUC7, MUS81, MUSK, MUT, MYBPC1, MYBPC3, MYH11, MYH14, MYH3, MYH6, MYH7, MYH8, MYLK, MYO1A, MYO1C, MYO3A, MYO5A, MYO5B, MYO7A, MYO7B, MYO9B, MYOC, MYOM1, MYOT, MYPN, MYT1L, NAGLU, NARS2, NAT2, NAV2, NBAS, NBEA, NBEAL2, NBN, NCAPD2, NCF4, NCOA4, NDOR1, NDUFA11, NDUFAF1, NDUFS2, NDUFS7, NEB, NEBL, NEDD4, NEFH, NEFM, NEU2, NEUROD1, NEUROG3, NEXN, NFATC4, NGF, NHLRC1, NHS, NIN, NINJ1, NIPAL4, NIPBL, NIPSNAP3A, NKX2-5, NLRP1, NLRP14, NLRP2, NLRP7, NLRX1, NME8, NMU, NOBOX, NOD2, NODAL, NOS1, NOTCH2, NOTCH3, NPAS2, NPAT, NPC1, NPHP4, NPHS1, NPSR1, NQO1, NR1H2, NR3C1, NR3C2, NR4A3, NRCAM, NRG1, NRP2, NRXN3, NSD1, NSUN7, NT5E, NUP214, NUP62, NXNL1, OAS1, OBSCN, OBSL1, OCA2, OLFM2, OPA1, OPRM1, OPTN, OR10X1, OR13G1, OR1B1, OR51G1, OR52H1, OR52N4, OR5H6, OR8K3, ORAI1, ORC4, OTC, OTOA, OTOF, OTOG, OTOGL, OVCH2, P2RX7, P2RY4, PADI4, PAH, PALM2-AKAP2, PANK2, PARD3B, PARK2, PARL, PARP1, PASK, PAX4, PCDH18, PCDHA1, PCDHA10, PCDHB4, PCK2, PCLO, PCM1, PCMT1, PCNT, PCSK5, PCSK9, PDE11A, PDE6A, PDE6B, PDE6C, PDHX, PDX1, PEPD, PER1, PEX10, PEX16, PEX2, PEX6, PFKM, PGM1, PGR, PHF2, PHF8, PHIP, PHLPP2, PIGN, PIGR, PIGZ, PIK3R2, PIKFYVE, PITPNM3, PKD1, PKD2, PKHD1, PLA2G4A, PLA2G7, PLAU, PLCB4, PLEC, PLEKHG5, PLIN1, PML, PMS2, PNP, PNPLA1, PNPLA2, PNPLA6, PNPT1, POF1B, POLG, POMGNT1, POMT1, PON1, PON2, POP1, POSTN, POU3F4, POU6F2, PPARGC1B, PPP1R17, PPP1R1A, PPP1R3A, PRB1, PRB3, PRB4, PRCC, PRDM16, PRDM9, PREPL, PRG4, PRKCA, PRKCSH, PRMT3, PRND, PROCR, PRODH, PROK1, PROP1, PROZ, PRPH2, PRSS12, PRSS56, PRX, PSTPIP2, PTCH1, PTCHD3, PTGS1, PTPN12, PTPN14, PTPN22, PTPRJ, PTPRK, PTPRN2, PTPRQ, PTPRT, PVRL4, PYY, PZP, RAB3GAP1, RAB3GAP2, RABGGTA, RABL6, RAD21L1, RAD50, RAD51D, RAG1, RAI1, RASA1, RAX, RB1CC1, RBL2, RBM20, RBMXL2, RBP3, RDH8, RECQL4, RFX5, RFX8, RGMA, RGS9BP, RHBDF2, RHPN2, RIN2, RIOK2, RIPK4, RNASEH2A, RNF168, RNF212, RNF213, ROBO1, ROBO3, ROCK1, ROM1, ROR2, ROS1, RP1, RP1L1, RPGR, RPGRIP1, RPL10, RPS6KA3, RPS6KL1, RTTN, RUNX2, RUNX3, RYK, RYR1, SAA1, SAG, SAGE1, SALL1, SALL4, SAMD9, SARDH, SATL1, SCARB1, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN3A, SCN4A, SCN5A, SCN7A, SCN9A, SCNN1A, SCO2, SCRIB, SCUBE2, SDC3, SDHAF1, SEC23A, SELL, SELPLG, SEMA6D, SEMG1, SEPN1, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB5, SERPINB6, SERPINF1, SERPINF2, SETBP1, SETD2, SETX, SEZ6, SEZ6L2, SFTPA1, SFTPA2, SFTPB, SFTPC, SGCD, SGCG, SGSH, SH2B3, SHANK3, SHROOM3, SHROOM4, SI, SIGLEC12, SIGLEC14, SIM1, SIPA1, SIX5, SIX6, SKI, SLC10A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC1A5, SLC20A2, SLC22A1, SLC22A18, SLC22A2, SLC24A1, SLC25A12, SLC25A15, SLC26A1, SLC26A10, SLC26A2, SLC28A1, SLC28A2, SLC29A3, SLC2A2, SLC2A9, SLC30A8, SLC33A1, SLC34A2, SLC34A3, SLC35G2, SLC39A13, SLC39A4, SLC3A1, SLC44A2, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC6A12, SLC6A18, SLC6A19, SLC6A2, SLC6A5, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLCO5A1, SLFN5, SLIT3, SLITRK5, SLX4, SMARCA2, SMCHD1, SMG1, SMPD1, SNTG2, SOBP, SOD2, SOD3, SOHLH1, SORL1, SP110, SP8, SPAG17, SPATA21, SPATA7, SPECC1, SPECC1L, SPEF2, SPG11, SPINK5, SPRN, SPRY2, SPTA1, SPTB, SPTBN2, SPTBN5, SREBF2, SRPX, SSTR5, SSX7, ST3GAL3, ST3GAL5, ST5, ST6GALNAC3, ST6GALNAC5, ST8SIA6, STIL, STK11IP, STK36, STK39, STK4, STOX1, STRC, STXBP2, SUCLA2, SULT1A1, SUMO4, SUV420H1, SV2B, SYNE1, SYNE2, SYNGR1, SYNM, SYTL3, TAAR9, TAC3, TAF1C, TAF1L, TAF2, TAS1R1, TAS1R3, TAS2R16, TAS2R38, TAT, TBC1D4, TBP, TBXA2R, TBXAS1, TCF3, TCF4, TCN1, TCN2, TCOF1, TCTE1, TDRD7, TECPR2, TECTA, TEK, TENC1, TET1, TET2, TEX14, TF, TFRC, TG, TGFB1, TGFBR1, TGM6, THSD7A, TICAM1, TINAG, TJP2, TLR1, TLR5, TLR6, TM4SF19, TMC6, TMEM135, TMEM173, TMEM216, TMEM237, TMEM256-PLSCR3, TMEM67, TMEM8A, TMEM99, TMIE, TMPO, TMPRSS15, TMPRSS3, TMPRSS5, TMPRSS6, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF1B, TNFSF14, TNR, TNXB, TP53, TP53BP1, TPCN2, TPO, TPRN, TPTE, TRAF3, TRAF3IP2, TRDN, TREH, TRERF1, TREX1, TRIM33, TRIOBP, TRIP11, TRPM1, TRPM2, TRPM3, TRPM7, TRPV1, TRPV3, TRPV5, TSC1, TSEN34, TSEN54, TSHB, TSHR, TSPO, TSPYL1, TSSC4, TTC21B, TTN, TUBGCP6, TULP1, TXNRD2, TYR, TYRO3, UBR7, UCHL1, UCP1, UGGT2, UGT1A7, UGT2A1, UGT2B4, UGT2B7, UGT8, ULK4, UMPS, UNC5C, UNC80, UNC93A, UNC93B1, UPK3A, UQCRFS1, USH1C, USH1G, USH2A, UTRN, UVSSA, VCAN, VCX3A, VDR, VNN1, VPS13B, VPS33B, VPS35, VWF, WAS, WASF3, WDR13, WDR35, WDR62, WDR65, WDR72, WDR81, WFS1, WIPF1, WNK1, WRAP53, WRN, WWC1, WWOX, WWTR1, XBP1, XG, XIAP, XRCC1, XRCC3, XYLT1, XYLT2, YBX2, YY1, ZAN, ZBTB24, ZBTB40, ZFAT, ZFHX3, ZFP36L1, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF419, ZNF423, ZNF469, ZNF592, ZNF750, ZNF80,
Genes at Omim
A2M, A4GALT, AARS2, ABAT, ABCA1, ABCA12, ABCA3, ABCB1, ABCB11, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG8, ABL1, ACAN, ACAT1, ACAT2, ACHE, ACOX1, ACP5, ACSF3, ACVR1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, ADAR, ADCY3, ADD1, ADH1C, ADRB2, AGA, AGL, AGT, AGXT2, AHI1, AHR, AHSG, AIP, AIPL1, AK7, AKAP9, AKR1C4, ALAD, ALG12, ALG2, ALG8, ALK, ALMS1, ALOXE3, ALS2, AMACR, AMH, ANGPTL4, ANK3, ANKRD11, ANKRD26, ANKS6, ANO10, ANO5, ANTXR2, AP3B1, AP4E1, APC, APOA5, APOB, APOL1, APP, AQP1, AQP7, AR, ARHGAP31, ARID1A, ARL13B, ARSE, ASAH1, ASB10, ASCL1, ASNS, ASPM, ASPN, ASXL1, ATG16L1, ATM, ATP1A3, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATRX, ATXN1, ATXN2, ATXN3, ATXN7, AXIN2, B9D1, B9D2, BAAT, BARD1, BBS10, BBS12, BBS2, BBS4, BCKDHA, BCR, BEST1, BGN, BHLHE41, BICC1, BLVRA, BMP4, BRCA1, BRCA2, BRIP1, BRWD3, BUB1B, C1R, C5, C6, C7, C8A, C8B, CABP2, CACNA1A, CACNA1E, CACNA1H, CACNA1S, CACNA2D4, CALCR, CAPN10, CARD14, CARD9, CASP10, CASP12, CASP8, CASR, CATSPER1, CC2D1A, CCDC11, CCDC39, CCDC50, CCDC78, CCDC88C, CD19, CD207, CD209, CD27, CD3G, CD44, CDH15, CDH23, CDH3, CDK5RAP2, CDKN1B, CDON, CDT1, CENPJ, CEP135, CEP164, CEP290, CETP, CFH, CFHR5, CFI, CHAT, CHD3, CHRNA2, CHRNA3, CHRNA5, CHRNB1, CHRND, CHSY1, CHUK, CIITA, CILP, CLCN1, CLCN2, CLCN7, CLCNKA, CLCNKB, CLN3, CNGB1, CNGB3, CNKSR2, CNPY3, COCH, COG1, COG2, COG4, COG6, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A6, COL5A1, COL6A1, COL6A2, COL6A3, COL9A3, COQ2, COQ6, CORIN, COX4I2, CP, CPOX, CPS1, CPT2, CR1, CR2, CRELD1, CRYBB3, CRYGB, CSH1, CSTA, CTC1, CTDP1, CTH, CTNNA3, CTNS, CTSA, CTSC, CUBN, CUL3, CUL7, CX3CR1, CYBA, CYP1B1, CYP21A2, CYP2C8, CYP4V2, D2HGDH, DAG1, DBT, DCC, DDC, DDHD1, DDOST, DGCR2, DHDDS, DHODH, DHTKD1, DIAPH1, DIAPH3, DICER1, DKC1, DLC1, DLL3, DMD, DMGDH, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNASE1, DNMT1, DOCK6, DOCK8, DOK7, DPAGT1, DPP6, DPYD, DRD3, DRD4, DSG1, DSG4, DSPP, DST, DUOX2, DUOXA2, DYNC2H1, EARS2, ECM1, EDAR, EDARADD, EDN1, EFEMP2, EFHC1, EGF, EIF2AK3, EIF2B5, EIF4G1, ELAC2, ELN, ELOVL4, ELP2, EMG1, EP300, EPCAM, EPHX1, EPM2A, ERCC5, ERMAP, ESPN, ETFB, ETFDH, EVC, EXPH5, EYA4, EYS, EZH2, F12, F13A1, F13B, F5, F9, FAAH, FAH, FAM161A, FAM20A, FAM20C, FAM83H, FANCA, FANCE, FANCI, FBLN1, FBN1, FBN2, FBP1, FBXO11, FBXO7, FFAR4, FGA, FGB, FGFR4, FIG4, FIGLA, FLG, FLNB, FLNC, FLT3, FLT4, FMN2, FMO3, FN1, FOXC1, FOXE1, FRAS1, FREM1, FREM2, FRMD7, FUT2, FUT3, FUT6, FYCO1, FZD6, GAA, GALC, GARS, GATA2, GATA6, GBE1, GCKR, GCNT2, GDF1, GDF5, GFM1, GGCX, GHR, GIGYF2, GJA3, GJC2, GLB1, GLI2, GLI3, GLIS3, GM2A, GNPAT, GNPTAB, GORAB, GP1BA, GP6, GPC3, GPC6, GPD2, GPSM2, GRIK2, GRIP1, GRM1, GRXCR1, GSTZ1, GUCY2C, GUCY2D, GUSB, GYPA, GYS2, HADHB, HAL, HCN1, HCRT, HEXA, HEXB, HGD, HIBCH, HMCN1, HNF1A, HOXA1, HOXA13, HOXB1, HPD, HPS4, HPSE2, HRG, HSD17B4, HSD3B7, HSPG2, HTRA1, HTT, HYDIN, HYLS1, IDH3B, IDUA, IFIH1, IFITM3, IFITM5, IFNAR2, IFT140, IFT43, IGF2R, IGFBP7, IGHMBP2, IKBKAP, IL10RA, IL12RB1, IL13, IL23R, IL31RA, IL6R, IL7R, ILDR1, IMPG2, ING1, INSL3, INSR, IQCB1, IQSEC2, IRAK3, IRS1, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGB2, ITGB4, IYD, JUP, KAL1, KALRN, KANK1, KARS, KBTBD13, KCNC3, KCNE1, KCNH2, KCNJ11, KCNJ13, KCNJ5, KCNMB1, KCNQ2, KCNQ4, KDM6A, KERA, KHDC3L, KIAA1279, KIF11, KIF1A, KIF7, KISS1R, KLF1, KLF11, KLK1, KLK4, KLKB1, KMT2D, KNG1, KRT10, KRT13, KRT14, KRT3, KRT4, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC3, LBR, LCA5, LCT, LDLRAP1, LEPR, LHCGR, LIPC, LIPI, LIPN, LMAN1, LMBRD1, LMF1, LOX, LOXHD1, LOXL1, LPA, LPIN1, LPL, LRBA, LRIT3, LRP1, LRP2, LRP4, LRP5, LRP8, LRRC6, LRRK2, LRSAM1, LTBP4, LYST, MAD1L1, MAFA, MAML2, MAMLD1, MAN1B1, MAN2B1, MANBA, MAP3K1, MARVELD2, MASP2, MCC, MCCC1, MCEE, MCM4, MCM9, MCPH1, MECP2, MED12, MED17, MEF2A, MEFV, MEN1, MERTK, MESP2, MFRP, MKKS, MLC1, MLH1, MLH3, MLPH, MMP14, MMP20, MMP3, MMP9, MNX1, MOCOS, MSH3, MSH6, MST1R, MSX2, MTHFD1, MTHFR, MTPAP, MTRR, MTTP, MUC5B, MUC7, MUSK, MUT, MYBPC1, MYBPC3, MYH11, MYH14, MYH3, MYH6, MYH7, MYH8, MYLK, MYO3A, MYO5A, MYO5B, MYO7A, MYO9B, MYOC, MYOT, MYPN, MYT1L, NAGLU, NARS2, NAT2, NBAS, NBEAL2, NBN, NCAPD2, NCF4, NDUFA11, NDUFAF1, NDUFS2, NDUFS7, NEB, NEFH, NEUROD1, NEUROG3, NEXN, NGF, NHLRC1, NHS, NIN, NIPAL4, NIPBL, NKX2-5, NLRP1, NME8, NOBOX, NOD2, NODAL, NOTCH2, NOTCH3, NPC1, NPC1, NPHP4, NPHS1, NPSR1, NQO1, NR3C1, NR3C2, NRG1, NSD1, NT5E, NUP214, NUP62, OBSL1, OCA2, OPA1, OPTN, ORAI1, ORC4, OTC, OTOA, OTOF, OTOG, OTOGL, PADI4, PAH, PANK2, PAX4, PCK2, PCLO, PCNT, PCSK9, PDE11A, PDE6A, PDE6B, PDE6C, PDHX, PDX1, PEPD, PEX10, PEX16, PEX2, PEX6, PFKM, PGM1, PGR, PHF8, PHIP, PIGN, PIK3R2, PIKFYVE, PITPNM3, PKD1, PKD2, PLA2G4A, PLA2G7, PLAU, PLCB4, PLEKHG5, PLIN1, PML, PMS2, PNP, PNPLA1, PNPLA2, PNPLA6, PNPT1, POLG, POMGNT1, POMT1, PON1, PON2, POP1, POU3F4, POU6F2, PPARGC1B, PPP1R3A, PRCC, PRDM16, PREPL, PRG4, PRKCA, PRKCSH, PRODH, PROP1, PROZ, PRPH2, PRSS12, PRSS56, PRX, PTCH1, PTPN12, PTPN14, PTPN22, PTPRJ, PTPRQ, RAB3GAP1, RAB3GAP2, RAD50, RAD51D, RAG1, RAI1, RASA1, RAX, RB1CC1, RBM20, RBP3, RECQL4, RFX5, RGS9BP, RHBDF2, RIN2, RIPK4, RNASEH2A, RNF168, RNF212, RNF213, ROBO3, ROM1, ROR2, RP1, RP1L1, RPGR, RPGRIP1, RPL10, RPS6KA3, RTTN, RUNX2, RYR1, SAG, SALL1, SALL4, SAMD9, SARDH, SCARB1, SCARF2, SCN10A, SCN11A, SCN1A, SCN1B, SCN3A, SCN4A, SCN5A, SCN9A, SCNN1A, SCO2, SDC3, SDHAF1, SEC23A, SERPINA3, SERPINB6, SERPINF1, SETBP1, SETD2, SETX, SFTPA2, SFTPB, SFTPC, SGCD, SGCG, SGSH, SH2B3, SHANK3, SHROOM4, SI, SIM1, SIX5, SIX6, SKI, SLC10A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC20A2, SLC24A1, SLC25A12, SLC25A15, SLC26A1, SLC26A2, SLC29A3, SLC2A2, SLC2A9, SLC30A8, SLC33A1, SLC34A2, SLC34A3, SLC39A13, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC6A19, SLC6A2, SLC6A5, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLX4, SMARCA2, SMCHD1, SMPD1, SOBP, SOD2, SOD3, SOHLH1, SP110, SPATA7, SPECC1L, SPG11, SPINK5, SPRY2, SPTA1, SPTB, SPTBN2, SSTR5, ST3GAL3, STIL, STK4, STOX1, STRC, STXBP2, SUCLA2, SUMO4, SYNE1, SYNE2, TAC3, TAF2, TAS2R16, TAS2R38, TAT, TBC1D4, TBP, TBXA2R, TBXAS1, TCF3, TCF4, TCN2, TCOF1, TDRD7, TECPR2, TECTA, TEK, TET2, TEX14, TF, TFRC, TG, TGFB1, TGFBR1, TGM6, TICAM1, TJP2, TLR1, TLR5, TMC6, TMEM173, TMEM216, TMEM237, TMEM67, TMIE, TMPRSS15, TMPRSS3, TMPRSS6, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNXB, TP53, TPCN2, TPO, TPRN, TRAF3, TRAF3IP2, TRDN, TREH, TREX1, TRIOBP, TRIP11, TRPM1, TRPM7, TRPV3, TSC1, TSEN34, TSEN54, TSHB, TSHR, TSPYL1, TTC21B, TTN, TUBGCP6, TULP1, TXNRD2, TYR, UCHL1, UCP1, UMPS, UNC80, UNC93B1, USH1C, USH2A, UVSSA, VCAN, VDR, VNN1, VPS13B, VPS33B, VPS35, VWF, WAS, WDR35, WDR62, WDR72, WDR81, WFS1, WIPF1, WNK1, WRAP53, WWC1, WWOX, XBP1, XG, XIAP, XRCC1, XRCC3, XYLT1, XYLT2, YY1, ZBTB24, ZFHX3, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF423, ZNF469, ZNF750,| A2M |
Alpha-2-macroglobulin deficiency, 614036 (1) {Alzheimer disease, susceptibility to}, 104300 (3) |
| 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) |
| ABAT |
GABA-transaminase deficiency, 613163 (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) |
| 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) |
| ABCC2 |
Dubin-Johnson syndrome, 237500 (3) |
| ABCC6 |
Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (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) |
| ABCG8 |
{Gallbladder disease 4}, 611465 (3) Sitosterolemia, 210250 (3) |
| ABL1 |
Congenital heart defects and skeletal malformations syndrome, 617602 (3) Leukemia, Philadelphia chromosome-positive, resistant to imatinib (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) |
| ACAT2 |
?ACAT2 deficiency, 614055 (1) |
| ACHE |
[Blood group, Yt system], 112100 (3) |
| ACOX1 |
Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) |
| ACP5 |
Spondyloenchondrodysplasia with immune dysregulation, 607944 (3) |
| ACSF3 |
Combined malonic and methylmalonic aciduria, 614265 (3) |
| ACVR1 |
Fibrodysplasia ossificans progressiva, 135100 (3) |
| ADAMTS10 |
Weill-Marchesani syndrome 1, recessive, 277600 (3) |
| ADAMTS13 |
Thrombotic thrombocytopenic purpura, familial, 274150 (3) |
| ADAMTS17 |
Weill-Marchesani 4 syndrome, recessive, 613195 (3) |
| ADAMTS18 |
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3) |
| ADAMTS2 |
Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (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) |
| ADCY3 |
{Obesity, susceptibility to, BMIQ19}, 617885 (3) |
| ADD1 |
{Hypertension, essential, salt-sensitive}, 145500 (3) |
| ADH1C |
{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3) |
| ADRB2 |
Beta-2-adrenoreceptor agonist, reduced response to (3) {Obesity, susceptibility to}, 601665 (3) {Asthma, nocturnal, susceptibility to}, 600807 (3) |
| AGA |
Aspartylglucosaminuria, 208400 (3) |
| AGL |
Glycogen storage disease IIIa, 232400 (3) Glycogen storage disease IIIb, 232400 (3) |
| AGT |
{Hypertension, essential, susceptibility to}, 145500 (3) {Preeclampsia, susceptibility to} (3) Renal tubular dysgenesis, 267430 (3) |
| AGXT2 |
[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3) |
| AHI1 |
Joubert syndrome 3, 608629 (3) |
| AHR |
?Retinitis pigmentosa 85, 618345 (3) |
| AHSG |
?Alopecia-mental retardation syndrome 1, 203650 (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) |
| AK7 |
?Spermatogenic failure 27, 617965 (3) |
| AKAP9 |
?Long QT syndrome-11, 611820 (3) |
| AKR1C4 |
{46XY sex reversal 8, modifier of}, 614279 (3) |
| ALAD |
{Lead poisoning, susceptibility to}, 612740 (3) Porphyria, acute hepatic, 612740 (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) |
| 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) |
| AMACR |
Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3) |
| AMH |
Persistent Mullerian duct syndrome, type I, 261550 (3) |
| ANGPTL4 |
Plasma triglyceride level QTL, low, 615881 (3) |
| ANK3 |
?Mental retardation, autosomal recessive, 37, 615493 (3) |
| ANKRD11 |
KBG syndrome, 148050 (3) |
| ANKRD26 |
Thrombocytopenia 2, 188000 (3) |
| ANKS6 |
Nephronophthisis 16, 615382 (3) |
| ANO10 |
Spinocerebellar ataxia, autosomal recessive 10, 613728 (3) |
| ANO5 |
Gnathodiaphyseal dysplasia, 166260 (3) Miyoshi muscular dystrophy 3, 613319 (3) Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3) |
| ANTXR2 |
Hyaline fibromatosis syndrome, 228600 (3) |
| AP3B1 |
Hermansky-Pudlak syndrome 2, 608233 (3) |
| AP4E1 |
Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3) |
| APC |
Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3) |
| APOA5 |
{Hypertriglyceridemia, susceptibility to}, 145750 (3) Hyperchylomicronemia, late-onset, 144650 (3) |
| APOB |
Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) Hypobetalipoproteinemia, 615558 (3) |
| APOL1 |
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3) |
| APP |
Alzheimer disease 1, familial, 104300 (3) Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3) |
| AQP1 |
[Aquaporin-1 deficiency], 110450 (3) [Blood group, Colton], 110450 (3) |
| AQP7 |
[Glycerol quantitative trait locus], 614411 (3) |
| AR |
Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3) |
| ARHGAP31 |
Adams-Oliver syndrome 1, 100300 (3) |
| ARID1A |
Coffin-Siris syndrome 2, 614607 (3) |
| ARL13B |
Joubert syndrome 8, 612291 (3) |
| ARSE |
Chondrodysplasia punctata, X-linked recessive, 302950 (3) |
| ASAH1 |
Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3) |
| ASB10 |
Glaucoma 1, open angle, F, 603383 (3) |
| ASCL1 |
Haddad syndrome, 209880 (3) Central hypoventilation syndrome, congenital, 209880 (3) |
| ASNS |
Asparagine synthetase deficiency, 615574 (3) |
| ASPM |
Microcephaly 5, primary, autosomal recessive, 608716 (3) |
| ASPN |
{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3) |
| ASXL1 |
Bohring-Opitz syndrome, 605039 (3) Myelodysplastic syndrome, somatic, 614286 (3) |
| ATG16L1 |
{Inflammatory bowel disease (Crohn disease) 10}, 611081 (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) |
| ATP1A3 |
Alternating hemiplegia of childhood 2, 614820 (3) CAPOS syndrome, 601338 (3) Dystonia-12, 128235 (3) |
| ATP6V0A4 |
Renal tubular acidosis, distal, autosomal recessive, 602722 (3) |
| ATP7A |
Menkes disease, 309400 (3) Occipital horn syndrome, 304150 (3) Spinal muscular atrophy, distal, X-linked 3, 300489 (3) |
| ATP7B |
Wilson disease, 277900 (3) |
| ATP8B1 |
Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3) |
| ATR |
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3) Seckel syndrome 1, 210600 (3) |
| ATRX |
Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3) Alpha-thalassemia/mental retardation syndrome, 301040 (3) Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) |
| ATXN1 |
Spinocerebellar ataxia 1, 164400 (3) |
| ATXN2 |
{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3) |
| ATXN3 |
Machado-Joseph disease, 109150 (3) |
| ATXN7 |
Spinocerebellar ataxia 7, 164500 (3) |
| AXIN2 |
Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3) |
| B9D1 |
Joubert syndrome 27, 617120 (3) ?Meckel syndrome 9, 614209 (3) |
| B9D2 |
Joubert syndrome 34, 614175 (3) ?Meckel syndrome 10, 614175 (3) |
| BAAT |
Hypercholanemia, familial, 607748 (3) |
| BARD1 |
{Breast cancer, susceptibility to}, 114480 (3) |
| BBS10 |
Bardet-Biedl syndrome 10, 615987 (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) |
| BCKDHA |
Maple syrup urine disease, type Ia, 248600 (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) |
| BGN |
Meester-Loeys syndrome, 300989 (3) Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3) |
| BHLHE41 |
[Short sleeper], 612975 (3) |
| BICC1 |
{Renal dysplasia, cystic, susceptibility to}, 601331 (3) |
| BLVRA |
Hyperbiliverdinemia, 614156 (3) |
| BMP4 |
Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3) |
| BRCA1 |
Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (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) |
| BRWD3 |
Mental retardation, X-linked 93, 300659 (3) |
| BUB1B |
Colorectal cancer, somatic, 114500 (3) Mosaic variegated aneuploidy syndrome 1, 257300 (3) [Premature chromatid separation trait], 176430 (3) |
| C1R |
Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3) |
| C5 |
C5 deficiency, 609536 (3) [Eculizumab, poor response to], 615749 (3) |
| C6 |
C6 deficiency, 612446 (3) Combined C6/C7 deficiency (3) |
| C7 |
C7 deficiency, 610102 (3) |
| C8A |
C8 deficiency, type I, 613790 (3) |
| C8B |
C8 deficiency, type II, 613789 (3) |
| CABP2 |
Deafness, autosomal recessive 93, 614899 (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) |
| CACNA1E |
Epileptic encephalopathy, early infantile, 69, 618285 (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) |
| CALCR |
{Osteoporosis, postmenopausal, susceptibility}, 166710 (3) |
| CAPN10 |
{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) |
| CARD14 |
Pityriasis rubra pilaris, 173200 (3) Psoriasis 2, 602723 (3) |
| CARD9 |
Candidiasis, familial, 2, autosomal recessive, 212050 (3) |
| CASP10 |
Gastric cancer, somatic, 613659 (3) Autoimmune lymphoproliferative syndrome, type II, 603909 (3) Lymphoma, non-Hodgkin, somatic, 605027 (3) |
| CASP12 |
{Sepsis, susceptibility to} (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) |
| 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) |
| CATSPER1 |
Spermatogenic failure 7, 612997 (3) |
| CC2D1A |
Mental retardation, autosomal recessive 3, 608443 (3) |
| CCDC11 |
Heterotaxy, visceral, 6, autosomal recessive, 614779 (3) |
| CCDC39 |
Ciliary dyskinesia, primary, 14, 613807 (3) |
| CCDC50 |
?Deafness, autosomal dominant 44, 607453 (3) |
| CCDC78 |
?Centronuclear myopathy 4, 614807 (3) |
| CCDC88C |
Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3) |
| CD19 |
Immunodeficiency, common variable, 3, 613493 (3) |
| CD207 |
[?Birbeck granule deficiency], 613393 (3) |
| CD209 |
{HIV type 1, susceptibility to}, 609423 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) {Dengue fever, protection against}, 614371 (3) |
| CD27 |
Lymphoproliferative syndrome 2, 615122 (3) |
| CD3G |
Immunodeficiency 17, CD3 gamma deficient, 615607 (3) |
| CD44 |
[Blood group, Indian system], 609027 (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) |
| CDH3 |
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) |
| CDK5RAP2 |
Microcephaly 3, primary, autosomal recessive, 604804 (3) |
| CDKN1B |
Multiple endocrine neoplasia, type IV, 610755 (3) |
| CDON |
Holoprosencephaly 11, 614226 (3) |
| CDT1 |
Meier-Gorlin syndrome 4, 613804 (3) |
| CENPJ |
Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3) |
| CEP135 |
Microcephaly 8, primary, autosomal recessive, 614673 (3) |
| CEP164 |
Nephronophthisis 15, 614845 (3) |
| CEP290 |
Joubert syndrome 5, 610188 (3) Leber congenital amaurosis 10, 611755 (3) Meckel syndrome 4, 611134 (3) ?Bardet-Biedl syndrome 14, 615991 (3) Senior-Loken syndrome 6, 610189 (3) |
| CETP |
Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (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) |
| CFHR5 |
Nephropathy due to CFHR5 deficiency, 614809 (3) |
| CFI |
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3) {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3) Complement factor I deficiency, 610984 (3) |
| CHAT |
Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) |
| CHD3 |
Snijders Blok-Campeau syndrome, 618205 (3) |
| CHRNA2 |
Epilepsy, nocturnal frontal lobe, type 4, 610353 (3) |
| CHRNA3 |
{Lung cancer susceptibility 2}, 612052 (3) |
| CHRNA5 |
{Lung cancer susceptibility 2}, 612052 (3) {Nicotine dependence, susceptibility to}, 612052 (3) |
| CHRNB1 |
Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3) ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (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) |
| CHSY1 |
Temtamy preaxial brachydactyly syndrome, 605282 (3) |
| CHUK |
Cocoon syndrome, 613630 (3) |
| CIITA |
Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3) |
| CILP |
{Lumbar disc disease, susceptibility to}, 603932 (3) |
| CLCN1 |
Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3) |
| CLCN2 |
Hyperaldosteronism, familial, type II, 605635 (3) Leukoencephalopathy with ataxia, 615651 (3) {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3) {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3) |
| CLCN7 |
Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3) |
| CLCNKA |
Bartter syndrome, type 4b, digenic, 613090 (3) |
| CLCNKB |
Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3) |
| CLN3 |
Ceroid lipofuscinosis, neuronal, 3, 204200 (3) |
| CNGB1 |
Retinitis pigmentosa 45, 613767 (3) |
| CNGB3 |
Achromatopsia 3, 262300 (3) Macular degeneration, juvenile, 248200 (3) |
| CNKSR2 |
Mental retardation, X-linked, syndromic, Houge type, 301008 (3) |
| CNPY3 |
Epileptic encephalopathy, early infantile, 60, 617929 (3) |
| COCH |
Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3) |
| COG1 |
Congenital disorder of glycosylation, type IIg, 611209 (3) |
| COG2 |
?Congenital disorder of glycosylation, type IIq, 617395 (3) |
| COG4 |
Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3) |
| COG6 |
Congenital disorder of glycosylation, type IIl, 614576 (3) Shaheen syndrome, 615328 (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) |
| 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) |
| COL1A1 |
Caffey disease, 114000 (3) Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3) Osteogenesis imperfecta, type I, 166200 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3) {Bone mineral density variation QTL, osteoporosis}, 166710 (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) |
| COL2A1 |
Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) |
| COL3A1 |
Ehlers-Danlos syndrome, vascular type, 130050 (3) Polymicrogyria with or without vascular-type EDS, 618343 (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) |
| COL4A3 |
Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3) |
| COL4A4 |
Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3) |
| COL4A6 |
?Deafness, X-linked 6, 300914 (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) |
| COL9A3 |
{Intervertebral disc disease, susceptibility to}, 603932 (3) Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3) |
| COQ2 |
Coenzyme Q10 deficiency, primary, 1, 607426 (3) {Multiple system atrophy, susceptibility to}, 146500 (3) |
| COQ6 |
Coenzyme Q10 deficiency, primary, 6, 614650 (3) |
| CORIN |
Preeclampsia/eclampsia 5, 614595 (3) |
| COX4I2 |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3) |
| CP |
Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3) Cerebellar ataxia, 604290 (3) [Hypoceruloplasminemia, hereditary], 604290 (3) |
| CPOX |
Harderoporphyria, 121300 (3) Coproporphyria, 121300 (3) |
| CPS1 |
Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3) |
| CPT2 |
CPT II deficiency, infantile, 600649 (3) CPT II deficiency, lethal neonatal, 608836 (3) CPT II deficiency, myopathic, stress-induced, 255110 (3) {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (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) |
| CRELD1 |
Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3) |
| CRYBB3 |
Cataract 22, 609741 (3) |
| CRYGB |
Cataract 39, multiple types, autosomal dominant, 615188 (3) |
| CSH1 |
[Placental lactogen deficiency] (1) |
| 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) |
| CTH |
Homocysteine, total plasma, elevated (3) Cystathioninuria, 219500 (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) |
| CTSA |
Galactosialidosis, 256540 (3) |
| CTSC |
Haim-Munk syndrome, 245010 (3) Papillon-Lefevre syndrome, 245000 (3) Periodontitis 1, juvenile, 170650 (3) |
| CUBN |
Megaloblastic anemia-1, Finnish type, 261100 (3) |
| CUL3 |
Pseudohypoaldosteronism, type IIE, 614496 (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) |
| CYBA |
Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (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) |
| CYP2C8 |
{Drug metabolism, altered, CYP2C8-related}, 618018 (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) |
| DBT |
Maple syrup urine disease, type II, 248600 (3) |
| DCC |
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) Colorectal cancer, somatic, 114500 (3) Esophageal carcinoma, somatic, 133239 (3) Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3) |
| DDC |
Aromatic L-amino acid decarboxylase deficiency, 608643 (3) |
| DDHD1 |
Spastic paraplegia 28, autosomal recessive, 609340 (3) |
| DDOST |
?Congenital disorder of glycosylation, type Ir, 614507 (3) |
| DGCR2 |
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |
| DHDDS |
Developmental delay and seizures with or without movement abnormalities, 617836 (3) ?Congenital disorder of glycosylation, type 1bb, 613861 (3) Retinitis pigmentosa 59, 613861 (3) |
| DHODH |
Miller syndrome, 263750 (3) |
| DHTKD1 |
2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3) |
| DIAPH1 |
Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3) |
| DIAPH3 |
Auditory neuropathy, autosomal dominant, 1, 609129 (3) |
| DICER1 |
GLOW syndrome, somatic mosaic, 618272 (3) Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3) Pleuropulmonary blastoma, 601200 (3) Rhabdomyosarcoma, embryonal, 2, 180295 (3) |
| DKC1 |
Dyskeratosis congenita, X-linked, 305000 (3) |
| DLC1 |
Colorectal cancer, somatic, 114500 (3) |
| DLL3 |
Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) |
| DMD |
Becker muscular dystrophy, 300376 (3) Cardiomyopathy, dilated, 3B, 302045 (3) Duchenne muscular dystrophy, 310200 (3) |
| DMGDH |
Dimethylglycine dehydrogenase deficiency, 605850 (3) |
| DNAAF1 |
Ciliary dyskinesia, primary, 13, 613193 (3) |
| DNAAF3 |
Ciliary dyskinesia, primary, 2, 606763 (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) |
| DNAI2 |
Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) |
| DNASE1 |
{Systemic lupus erythematosus, susceptibility to}, 152700 (3) |
| DNMT1 |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3) Neuropathy, hereditary sensory, type IE, 614116 (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) |
| DPAGT1 |
Congenital disorder of glycosylation, type Ij, 608093 (3) Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) |
| DPP6 |
{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (3) |
| DPYD |
Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5-fluorouracil toxicity, 274270 (3) |
| DRD3 |
{Essential tremor, hereditary, 1}, 190300 (3) {Schizophrenia, susceptibility to}, 181500 (3) |
| DRD4 |
Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3) |
| DSG1 |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3) |
| DSG4 |
Hypotrichosis 6, 607903 (3) |
| DSPP |
Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (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) |
| DUOXA2 |
Thyroid dyshormonogenesis 5, 274900 (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) |
| EDN1 |
{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3) |
| EFEMP2 |
Cutis laxa, autosomal recessive, type IB, 614437 (3) |
| EFHC1 |
{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3) {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) |
| EGF |
Hypomagnesemia 4, renal, 611718 (3) |
| EIF2AK3 |
Wolcott-Rallison syndrome, 226980 (3) |
| EIF2B5 |
Leukoencephalopathy with vanishing white matter, 603896 (3) Ovarioleukodystrophy, 603896 (3) |
| EIF4G1 |
{Parkinson disease 18}, 614251 (3) |
| ELAC2 |
Combined oxidative phosphorylation deficiency 17, 615440 (3) {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (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) |
| EMG1 |
Bowen-Conradi syndrome, 211180 (3) |
| EP300 |
Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3) |
| EPCAM |
Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) |
| EPHX1 |
?Hypercholanemia, familial, 607748 (3) |
| EPM2A |
Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) |
| ERCC5 |
Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3) |
| ERMAP |
[Blood group, Radin], 111620 (3) [Blood group, Scianna system], 111750 (3) |
| ESPN |
Deafness, autosomal recessive 36, 609006 (3) Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) |
| ETFB |
Glutaric acidemia IIB, 231680 (3) |
| ETFDH |
Glutaric acidemia IIC, 231680 (3) |
| EVC |
Ellis-van Creveld syndrome, 225500 (3) ?Weyers acrofacial dysostosis, 193530 (3) |
| EXPH5 |
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3) |
| EYA4 |
Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3) |
| EYS |
Retinitis pigmentosa 25, 602772 (3) |
| EZH2 |
Weaver syndrome, 277590 (3) |
| F12 |
Factor XII deficiency, 234000 (3) Angioedema, hereditary, type III, 610618 (3) |
| F13A1 |
Factor XIIIA deficiency, 613225 (3) {Myocardial infarction, protection against}, 608446 (3) {Venous thrombosis, protection against}, 188050 (3) |
| F13B |
Factor XIIIB deficiency, 613235 (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) |
| F9 |
Hemophilia B, 306900 (3) {Warfarin sensitivity}, 122700 (3) Thrombophilia, X-linked, due to factor IX defect, 300807 (3) {Deep venous thrombosis, protection against}, 300807 (3) |
| FAAH |
{Drug addiction, susceptibility to}, 606581 (3) |
| FAH |
Tyrosinemia, type I, 276700 (3) |
| FAM161A |
Retinitis pigmentosa 28, 606068 (3) |
| FAM20A |
Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3) |
| FAM20C |
Raine syndrome, 259775 (3) |
| FAM83H |
Amelogenesis imperfecta, type IIIA, 130900 (3) |
| FANCA |
Fanconi anemia, complementation group A, 227650 (3) |
| FANCE |
Fanconi anemia, complementation group E, 600901 (3) |
| FANCI |
Fanconi anemia, complementation group I, 609053 (3) |
| FBLN1 |
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4) |
| FBN1 |
Geleophysic dysplasia 2, 614185 (3) Ectopia lentis, familial, 129600 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Acromicric dysplasia, 102370 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3) |
| FBN2 |
Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3) |
| FBP1 |
Fructose-1,6-bisphosphatase deficiency, 229700 (3) |
| FBXO11 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3) |
| FBXO7 |
Parkinson disease 15, autosomal recessive, 260300 (3) |
| FFAR4 |
{Obesity, susceptibility to}, 607514 (3) |
| FGA |
Afibrinogenemia, congenital, 202400 (3) Amyloidosis, familial visceral, 105200 (3) Hypodysfibrinogenemia, congenital, 616004 (3) Dysfibrinogenemia, congenital, 616004 (3) |
| FGB |
Afibrinogenemia, congenital, 202400 (3) Hypofibrinogenemia, congenital, 202400 (3) Dysfibrinogenemia, congenital, 616004 (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) |
| FIGLA |
Premature ovarian failure 6, 612310 (3) |
| FLG |
Ichthyosis vulgaris, 146700 (3) {Dermatitis, atopic, susceptibility to, 2}, 605803 (3) |
| FLNB |
Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3) |
| FLNC |
Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (3) |
| FLT3 |
Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3) |
| FLT4 |
Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (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) |
| FOXE1 |
Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (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) |
| FRMD7 |
Nystagmus 1, congenital, X-linked, 310700 (3) Nystagmus, infantile periodic alternating, X-linked, 310700 (3) |
| FUT2 |
{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3) |
| FUT3 |
[Blood group, Lewis] (3) |
| FUT6 |
Fucosyltransferase 6 deficiency, 613852 (3) |
| FYCO1 |
Cataract 18, autosomal recessive, 610019 (3) |
| FZD6 |
Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3) |
| GAA |
Glycogen storage disease II, 232300 (3) |
| GALC |
Krabbe disease, 245200 (3) |
| GARS |
Charcot-Marie-Tooth disease, type 2D, 601472 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3) |
| GATA2 |
{Leukemia, acute myeloid, susceptibility to}, 601626 (3) {Myelodysplastic syndrome, susceptibility to}, 614286 (3) Immunodeficiency 21, 614172 (3) Emberger syndrome, 614038 (3) |
| GATA6 |
Atrial septal defect 9, 614475 (3) Atrioventricular septal defect 5, 614474 (3) Pancreatic agenesis and congenital heart defects, 600001 (3) Persistent truncus arteriosus, 217095 (3) Tetralogy of Fallot, 187500 (3) |
| GBE1 |
Glycogen storage disease IV, 232500 (3) Polyglucosan body disease, adult form, 263570 (3) |
| GCKR |
[Fasting plasma glucose level QTL 5], 613463 (3) |
| GCNT2 |
Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3) |
| GDF1 |
Congenital heart defects, multiple types, 6, 613854 (3) Right atrial isomerism (Ivemark), 208530 (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) |
| GFM1 |
Combined oxidative phosphorylation deficiency 1, 609060 (3) |
| GGCX |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3) |
| GHR |
{Hypercholesterolemia, familial, modifier of}, 143890 (3) Growth hormone insensitivity, partial, 604271 (3) Increased responsiveness to growth hormone, 604271 (3) Laron dwarfism, 262500 (3) |
| GIGYF2 |
{Parkinson disease 11}, 607688 (3) |
| GJA3 |
Cataract 14, multiple types, 601885 (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) |
| 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) |
| GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) |
| GM2A |
GM2-gangliosidosis, AB variant, 272750 (3) |
| GNPAT |
Rhizomelic chondrodysplasia punctata, type 2, 222765 (3) |
| GNPTAB |
Mucolipidosis II alpha/beta, 252500 (3) Mucolipidosis III alpha/beta, 252600 (3) |
| GORAB |
Geroderma osteodysplasticum, 231070 (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) |
| GPD2 |
{Diabetes, type 2, susceptibility to}, 125853 (3) |
| GPSM2 |
Chudley-McCullough syndrome, 604213 (3) |
| GRIK2 |
Mental retardation, autosomal recessive, 6, 611092 (3) |
| GRIP1 |
Fraser syndrome 3, 617667 (3) |
| GRM1 |
Spinocerebellar ataxia 44, 617691 (3) Spinocerebellar ataxia, autosomal recessive 13, 614831 (3) |
| GRXCR1 |
Deafness, autosomal recessive 25, 613285 (3) |
| GSTZ1 |
[Maleylacetoacetate isomerase deficiency], 617596 (3) |
| GUCY2C |
Diarrhea 6, 614616 (3) Meconium ileus, 614665 (3) |
| GUCY2D |
Cone-rod dystrophy 6, 601777 (3) Leber congenital amaurosis 1, 204000 (3) ?Choroidal dystrophy, central areolar 1, 215500 (3) |
| GUSB |
Mucopolysaccharidosis VII, 253220 (3) |
| GYPA |
{Malaria, resistance to}, 611162 (3) [Blood group, MNSs system], 111300 (3) |
| GYS2 |
Glycogen storage disease 0, liver, 240600 (3) |
| HADHB |
Trifunctional protein deficiency, 609015 (3) |
| HAL |
[Histidinemia], 235800 (3) |
| HCN1 |
Epileptic encephalopathy, early infantile, 24, 615871 (3) |
| HCRT |
?Narcolepsy 1, 161400 (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) |
| HMCN1 |
{Macular degeneration, age-related, 1}, 603075 (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) |
| HOXA1 |
Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3) |
| HOXA13 |
Guttmacher syndrome, 176305 (3) Hand-foot-uterus syndrome, 140000 (3) |
| HOXB1 |
Facial paresis, hereditary congenital, 3, 614744 (3) |
| HPD |
Hawkinsinuria, 140350 (3) Tyrosinemia, type III, 276710 (3) |
| HPS4 |
Hermansky-Pudlak syndrome 4, 614073 (3) |
| HPSE2 |
Urofacial syndrome 1, 236730 (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) |
| HSD3B7 |
Bile acid synthesis defect, congenital, 1, 607765 (3) |
| HSPG2 |
Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) Schwartz-Jampel syndrome, type 1, 255800 (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) |
| HTT |
Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3) |
| HYDIN |
Ciliary dyskinesia, primary, 5, 608647 (3) |
| HYLS1 |
Hydrolethalus syndrome, 236680 (3) |
| IDH3B |
Retinitis pigmentosa 46, 612572 (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) |
| IFITM5 |
Osteogenesis imperfecta, type V, 610967 (3) |
| IFNAR2 |
{Hepatitis B virus, susceptibility to}, 610424 (3) ?Immunodeficiency 45, 616669 (3) |
| IFT140 |
Retinitis pigmentosa 80, 617781 (3) Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) |
| IFT43 |
?Cranioectodermal dysplasia 3, 614099 (3) ?Retinitis pigmentosa 81, 617871 (3) Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3) |
| IGF2R |
Hepatocellular carcinoma, somatic, 114550 (3) |
| IGFBP7 |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) |
| IGHMBP2 |
Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) Neuronopathy, distal hereditary motor, type VI, 604320 (3) |
| IKBKAP |
Dysautonomia, familial, 223900 (3) |
| IL10RA |
Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3) |
| IL12RB1 |
Immunodeficiency 30, 614891 (3) |
| IL13 |
{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3) |
| IL23R |
{Inflammatory bowel disease 17, protection against}, 612261 (3) {Psoriasis, protection against}, 605606 (3) |
| IL31RA |
?Amyloidosis, primary localized cutaneous, 2, 613955 (3) |
| IL6R |
[Interleukin 6, serum level of, QTL], 614752 (3) [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3) |
| IL7R |
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) |
| ILDR1 |
Deafness, autosomal recessive 42, 609646 (3) |
| IMPG2 |
Macular dystrophy, vitelliform, 5, 616152 (3) Retinitis pigmentosa 56, 613581 (3) |
| ING1 |
Squamous cell carcinoma, head and neck, somatic, 275355 (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) |
| IRS1 |
{Coronary artery disease, susceptibility to} (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
| ISCU |
Myopathy with lactic acidosis, hereditary, 255125 (3) |
| ISPD |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (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) |
| ITGB2 |
Leukocyte adhesion deficiency, 116920 (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) |
| IYD |
Thyroid dyshormonogenesis 4, 274800 (3) |
| JUP |
Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3) |
| KAL1 |
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3) |
| KALRN |
{Coronary heart disease, susceptibility to, 5}, 608901 (3) |
| KANK1 |
Cerebral palsy, spastic quadriplegic, 2, 612900 (3) |
| KARS |
Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) |
| KBTBD13 |
Nemaline myopathy 6, autosomal dominant, 609273 (3) |
| KCNC3 |
Spinocerebellar ataxia 13, 605259 (3) |
| KCNE1 |
Long QT syndrome 5, 613695 (3) Jervell and Lange-Nielsen syndrome 2, 612347 (3) |
| KCNH2 |
{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3) Long QT syndrome 2, 613688 (3) Short QT syndrome 1, 609620 (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) |
| KCNJ13 |
Leber congenital amaurosis 16, 614186 (3) Snowflake vitreoretinal degeneration, 193230 (3) |
| KCNJ5 |
Hyperaldosteronism, familial, type III, 613677 (3) Long QT syndrome 13, 613485 (3) |
| KCNMB1 |
{Hypertension, diastolic, resistance to}, 608622 (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) |
| KDM6A |
Kabuki syndrome 2, 300867 (3) |
| KERA |
Cornea plana 2, autosomal recessive, 217300 (3) |
| KHDC3L |
Hydatidiform mole, recurrent, 2, 614293 (3) |
| KIAA1279 |
Goldberg-Shprintzen megacolon syndrome, 609460 (3) |
| KIF11 |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3) |
| KIF1A |
Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3) |
| KIF7 |
Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3) |
| KISS1R |
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3) ?Precocious puberty, central, 1, 176400 (3) |
| KLF1 |
Blood group--Lutheran inhibitor, 111150 (3) Dyserythropoietic anemia, congenital, type IV, 613673 (3) [Hereditary persistence of fetal hemoglobin], 613566 (3) |
| KLF11 |
Maturity-onset diabetes of the young, type VII, 610508 (3) |
| KLK1 |
[Kallikrein, decreased urinary activity of], 615953 (3) |
| KLK4 |
Amelogenesis imperfecta, type IIA1, 204700 (3) |
| KLKB1 |
Fletcher factor (prekallikrein) deficiency, 612423 (3) |
| KMT2D |
Kabuki syndrome 1, 147920 (3) |
| KNG1 |
[High molecular weight kininogen deficiency], 228960 (3) [Kininogen deficiency], 228960 (3) |
| KRT10 |
Ichthyosis with confetti, 609165 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3) |
| KRT13 |
White sponge nevus 2, 615785 (3) |
| KRT14 |
Dermatopathia pigmentosa reticularis, 125595 (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) Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3) |
| KRT3 |
Meesmann corneal dystrophy, 122100 (3) |
| KRT4 |
White sponge nevus 1, 193900 (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) |
| 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) |
| LAMB2 |
Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3) Pierson syndrome, 609049 (3) |
| LAMC3 |
Cortical malformations, occipital, 614115 (3) |
| LBR |
Greenberg skeletal dysplasia, 215140 (3) Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3) Pelger-Huet anomaly, 169400 (3) ?Reynolds syndrome, 613471 (3) |
| LCA5 |
Leber congenital amaurosis 5, 604537 (3) |
| LCT |
Lactase deficiency, congenital, 223000 (3) |
| LDLRAP1 |
Hypercholesterolemia, familial, autosomal recessive, 603813 (3) |
| LEPR |
Obesity, morbid, due to leptin receptor deficiency, 614963 (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) |
| LIPC |
Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
| LIPI |
{Hypertriglyceridemia, susceptibility to}, 145750 (3) |
| LIPN |
Ichthyosis, congenital, autosomal recessive 8, 613943 (3) |
| LMAN1 |
Combined factor V and VIII deficiency, 227300 (3) |
| LMBRD1 |
Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) |
| LMF1 |
Lipase deficiency, combined, 246650 (3) |
| LOX |
Aortic aneurysm, familial thoracic 10, 617168 (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) |
| LPL |
Combined hyperlipidemia, familial, 144250 (3) Lipoprotein lipase deficiency, 238600 (3) [High density lipoprotein cholesterol level QTL 11] (3) |
| LRBA |
Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) |
| LRIT3 |
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (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) |
| LRP8 |
{Myocardial infarction, susceptibility to}, 608446 (3) |
| LRRC6 |
Ciliary dyskinesia, primary, 19, 614935 (3) |
| LRRK2 |
{Parkinson disease 8}, 607060 (3) |
| LRSAM1 |
Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3) |
| LTBP4 |
Cutis laxa, autosomal recessive, type IC, 613177 (3) |
| LYST |
Chediak-Higashi syndrome, 214500 (3) |
| MAD1L1 |
Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3) |
| MAFA |
Insulinomatosis and diabetes mellitus, 147630 (3) |
| MAML2 |
Mucoepidermoid salivary gland carcinoma (3) |
| MAMLD1 |
Hypospadias 2, X-linked, 300758 (3) |
| MAN1B1 |
Mental retardation, autosomal recessive 15, 614202 (3) |
| MAN2B1 |
Mannosidosis, alpha-, types I and II, 248500 (3) |
| MANBA |
Mannosidosis, beta, 248510 (3) |
| MAP3K1 |
46XY sex reversal 6, 613762 (3) |
| MARVELD2 |
Deafness, autosomal recessive 49, 610153 (3) |
| MASP2 |
MASP2 deficiency, 613791 (3) |
| MCC |
Colorectal cancer, somatic, 114500 (3) |
| MCCC1 |
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) |
| MCEE |
Methylmalonyl-CoA epimerase deficiency, 251120 (3) |
| MCM4 |
Immunodeficiency 54, 609981 (3) |
| MCM9 |
Ovarian dysgenesis 4, 616185 (3) |
| MCPH1 |
Microcephaly 1, primary, autosomal recessive, 251200 (3) |
| MECP2 |
Encephalopathy, neonatal severe, 300673 (3) Mental retardation, X-linked syndromic, Lubs type, 300260 (3) Mental retardation, X-linked, syndromic 13, 300055 (3) Rett syndrome, 312750 (3) Rett syndrome, atypical, 312750 (3) Rett syndrome, preserved speech variant, 312750 (3) {Autism susceptibility, X-linked 3}, 300496 (3) |
| MED12 |
Lujan-Fryns syndrome, 309520 (3) Ohdo syndrome, X-linked, 300895 (3) Opitz-Kaveggia syndrome, 305450 (3) |
| MED17 |
Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (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) |
| MESP2 |
Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) |
| MFRP |
Microphthalmia, isolated 5, 611040 (3) Nanophthalmos 2, 609549 (3) |
| MKKS |
Bardet-Biedl syndrome 6, 605231 (3) McKusick-Kaufman syndrome, 236700 (3) |
| MLC1 |
Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |
| MLH1 |
Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3) Mismatch repair cancer syndrome, 276300 (3) Muir-Torre syndrome, 158320 (3) |
| MLH3 |
Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3) |
| MLPH |
Griscelli syndrome, type 3, 609227 (3) |
| MMP14 |
?Winchester syndrome, 277950 (3) |
| MMP20 |
Amelogenesis imperfecta, type IIA2, 612529 (3) |
| MMP3 |
{Coronary heart disease, susceptibility to, 6}, 614466 (3) |
| MMP9 |
Metaphyseal anadysplasia 2, 613073 (3) |
| MNX1 |
Currarino syndrome, 176450 (3) |
| MOCOS |
Xanthinuria, type II, 603592 (3) |
| MSH3 |
Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3) |
| MSH6 |
Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) Mismatch repair cancer syndrome, 276300 (3) {Endometrial cancer, familial}, 608089 (3) |
| MST1R |
{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3) |
| MSX2 |
Craniosynostosis 2, 604757 (3) Parietal foramina 1, 168500 (3) Parietal foramina with cleidocranial dysplasia, 168550 (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) |
| MTPAP |
?Spastic ataxia 4, autosomal recessive, 613672 (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) |
| MUC5B |
{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) |
| MUC7 |
{Asthma, protection against}, 600807 (3) |
| MUSK |
Fetal akinesia deformation sequence, 208150 (3) Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) |
| MUT |
Methylmalonic aciduria, mut(0) type, 251000 (3) |
| MYBPC1 |
Arthrogryposis, distal, type 1B, 614335 (3) Lethal congenital contracture syndrome 4, 614915 (3) |
| MYBPC3 |
Cardiomyopathy, dilated, 1MM, 615396 (3) Cardiomyopathy, hypertrophic, 4, 115197 (3) Left ventricular noncompaction 10, 615396 (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) |
| 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) |
| MYH7 |
Cardiomyopathy, dilated, 1S, 613426 (3) Cardiomyopathy, hypertrophic, 1, 192600 (3) Laing distal myopathy, 160500 (3) Left ventricular noncompaction 5, 613426 (3) Myopathy, myosin storage, autosomal dominant, 608358 (3) Myopathy, myosin storage, autosomal recessive, 255160 (3) Scapuloperoneal syndrome, myopathic type, 181430 (3) |
| MYH8 |
Carney complex variant, 608837 (3) Trismus-pseudocamptodactyly syndrome, 158300 (3) |
| MYLK |
Aortic aneurysm, familial thoracic 7, 613780 (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) |
| MYOT |
Myopathy, myofibrillar, 3, 609200 (3) Myopathy, spheroid body, 182920 (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) |
| MYT1L |
Mental retardation, autosomal dominant 39, 616521 (3) |
| NAGLU |
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3) |
| NARS2 |
Combined oxidative phosphorylation deficiency 24, 616239 (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) |
| NCAPD2 |
?Microcephaly 21, primary, autosomal recessive, 617983 (3) |
| NCF4 |
?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3) |
| NDUFA11 |
Mitochondrial complex I deficiency, nuclear type 14, 618236 (3) |
| NDUFAF1 |
Mitochondrial complex I deficiency, nuclear type 11, 618234 (3) |
| NDUFS2 |
Mitochondrial complex I deficiency, nuclear type 6, 618228 (3) |
| NDUFS7 |
Mitochondrial complex I deficiency, nuclear type 3, 618224 (3) |
| NEB |
Nemaline myopathy 2, autosomal recessive, 256030 (3) |
| NEFH |
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3) |
| NEUROD1 |
Maturity-onset diabetes of the young 6, 606394 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3) |
| NEUROG3 |
Diarrhea 4, malabsorptive, congenital, 610370 (3) |
| NEXN |
Cardiomyopathy, dilated, 1CC, 613122 (3) Cardiomyopathy, hypertrophic, 20, 613876 (3) |
| NGF |
Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) |
| NHLRC1 |
Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) |
| NHS |
Cataract 40, X-linked, 302200 (3) Nance-Horan syndrome, 302350 (3) |
| NIN |
?Seckel syndrome 7, 614851 (3) |
| NIPAL4 |
Ichthyosis, congenital, autosomal recessive 6, 612281 (3) |
| NIPBL |
Cornelia de Lange syndrome 1, 122470 (3) |
| NKX2-5 |
Atrial septal defect 7, with or without AV conduction defects, 108900 (3) Hypoplastic left heart syndrome 2, 614435 (3) Hypothyroidism, congenital nongoitrous, 5, 225250 (3) Conotruncal heart malformations, variable, 217095 (3) Tetralogy of Fallot, 187500 (3) Ventricular septal defect 3, 614432 (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) |
| NOBOX |
Premature ovarian failure 5, 611548 (3) |
| NOD2 |
Blau syndrome, 186580 (3) {Inflammatory bowel disease 1, Crohn disease}, 266600 (3) {Psoriatic arthritis, susceptibility to}, 607507 (2) {Yao syndrome}, 617321 (3) |
| NODAL |
Heterotaxy, visceral, 5, 270100 (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 |
{Nasopharyngeal carcinoma 1} (2) |
| NPC1 |
Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3) |
| NPHP4 |
Nephronophthisis 4, 606966 (3) Senior-Loken syndrome 4, 606996 (3) |
| NPHS1 |
Nephrotic syndrome, type 1, 256300 (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) |
| 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) |
| NSD1 |
Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3) |
| NT5E |
Calcification of joints and arteries, 211800 (3) |
| NUP214 |
Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, somatic, 601626 (3) |
| NUP62 |
Striatonigral degeneration, infantile, 271930 (3) |
| OBSL1 |
3-M syndrome 2, 612921 (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) |
| OPA1 |
{Glaucoma, normal tension, susceptibility to}, 606657 (3) Behr syndrome, 210000 (3) Optic atrophy 1, 165500 (3) Optic atrophy plus syndrome, 125250 (3) ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (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) |
| ORC4 |
Meier-Gorlin syndrome 2, 613800 (3) |
| OTC |
Ornithine transcarbamylase deficiency, 311250 (3) |
| OTOA |
Deafness, autosomal recessive 22, 607039 (3) |
| OTOF |
Auditory neuropathy, autosomal recessive, 1, 601071 (3) Deafness, autosomal recessive 9, 601071 (3) |
| OTOG |
Deafness, autosomal recessive 18B, 614945 (3) |
| OTOGL |
Deafness, autosomal recessive 84B, 614944 (3) |
| PADI4 |
{Rheumatoid arthritis, susceptibility to}, 180300 (3) |
| PAH |
Phenylketonuria, 261600 (3) [Hyperphenylalaninemia, non-PKU mild], 261600 (3) |
| PANK2 |
HARP syndrome, 607236 (3) Neurodegeneration with brain iron accumulation 1, 234200 (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) |
| PCK2 |
PEPCK deficiency, mitochondrial, 261650 (1) |
| PCLO |
?Pontocerebellar hypoplasia, type 3, 608027 (3) |
| PCNT |
Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) |
| PCSK9 |
{Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Hypercholesterolemia, familial, 3, 603776 (3) |
| PDE11A |
Pigmented nodular adrenocortical disease, primary, 2, 610475 (3) |
| PDE6A |
Retinitis pigmentosa 43, 613810 (3) |
| PDE6B |
Night blindness, congenital stationary, autosomal dominant 2, 163500 (3) Retinitis pigmentosa-40, 613801 (3) |
| PDE6C |
Cone dystrophy 4, 613093 (3) |
| PDHX |
Lacticacidemia due to PDX1 deficiency, 245349 (3) |
| PDX1 |
MODY, type IV, 606392 (3) Pancreatic agenesis 1, 260370 (3) {Diabetes mellitus, type II, susceptibility to}, 125853 (3) |
| PEPD |
Prolidase deficiency, 170100 (3) |
| PEX10 |
Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3) Peroxisome biogenesis disorder 6B, 614871 (3) |
| PEX16 |
Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3) Peroxisome biogenesis disorder 8B, 614877 (3) |
| PEX2 |
Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3) Peroxisome biogenesis disorder 5B, 614867 (3) |
| PEX6 |
Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3) |
| PFKM |
Glycogen storage disease VII, 232800 (3) |
| PGM1 |
Congenital disorder of glycosylation, type It, 614921 (3) |
| PGR |
?Progesterone resistance, 264080 (2) |
| PHF8 |
Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |
| PHIP |
Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3) |
| PIGN |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) |
| PIK3R2 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3) |
| PIKFYVE |
Corneal fleck dystrophy, 121850 (3) |
| PITPNM3 |
Cone-rod dystrophy 5, 600977 (3) |
| PKD1 |
Polycystic kidney disease 1, 173900 (3) |
| PKD2 |
Polycystic kidney disease 2, 613095 (3) |
| PLA2G4A |
Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3) |
| PLA2G7 |
Platelet-activating factor acetylhydrolase deficiency, 614278 (3) {Asthma, susceptibility to}, 600807 (3) {Atopy, susceptibility to}, 147050 (3) |
| PLAU |
Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) |
| PLCB4 |
Auriculocondylar syndrome 2, 614669 (3) |
| PLEKHG5 |
Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3) |
| PLIN1 |
Lipodystrophy, familial partial, type 4, 613877 (3) |
| PML |
Leukemia, acute promyelocytic, PML/RARA type (3) |
| PMS2 |
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (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) |
| PNPLA6 |
Boucher-Neuhauser syndrome, 215470 (3) Oliver-McFarlane syndrome, 275400 (3) ?Laurence-Moon syndrome, 245800 (3) Spastic paraplegia 39, autosomal recessive, 612020 (3) |
| PNPT1 |
Combined oxidative phosphorylation deficiency 13, 614932 (3) Deafness, autosomal recessive 70, 614934 (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) |
| POMGNT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) Retinitis pigmentosa 76, 617123 (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) |
| PON1 |
{Microvascular complications of diabetes 5}, 612633 (3) {Organophosphate poisoning, sensitivity to} (3) {Coronary artery disease, susceptibility to} (3) {Coronary artery spasm 2, susceptibility to (3) |
| PON2 |
{Coronary artery disease, susceptibility to} (3) |
| POP1 |
Anauxetic dysplasia 2, 617396 (3) |
| POU3F4 |
Deafness, X-linked 2, 304400 (3) |
| POU6F2 |
{Wilms tumor susceptibility-5}, 601583 (3) |
| PPARGC1B |
{Obesity, variation in}, 601665 (3) |
| PPP1R3A |
Insulin resistance, severe, digenic, 125853 (3) |
| PRCC |
Renal cell carcinoma, papillary, 605074 (3) |
| PRDM16 |
Cardiomyopathy, dilated, 1LL, 615373 (3) Left ventricular noncompaction 8, 615373 (3) |
| PREPL |
Myasthenic syndrome, congenital, 22, 616224 (3) |
| PRG4 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) |
| PRKCA |
Pituitary tumor, invasive (3) |
| PRKCSH |
Polycystic liver disease 1, 174050 (3) |
| PRODH |
Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3) |
| PROP1 |
Pituitary hormone deficiency, combined, 2, 262600 (3) |
| PROZ |
[Protein Z deficiency], 614024 (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) |
| PRSS12 |
Mental retardation, autosomal recessive 1, 249500 (3) |
| PRSS56 |
Microphthalmia, isolated 6, 613517 (3) |
| PRX |
Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (3) |
| PTCH1 |
Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3) |
| PTPN12 |
Colon cancer, somatic, 114500 (3) |
| PTPN14 |
Choanal atresia and lymphedema, 613611 (3) |
| PTPN22 |
{Rheumatoid arthritis, susceptibility to}, 180300 (3) {Systemic lupus erythematosus susceptibility to}, 152700 (3) {Diabetes, type 1, susceptibility to}, 222100 (3) |
| PTPRJ |
Colon cancer, somatic, 114500 (3) |
| PTPRQ |
Deafness, autosomal dominant 73, 617663 (3) Deafness, autosomal recessive 84A, 613391 (3) |
| RAB3GAP1 |
Warburg micro syndrome 1, 600118 (3) |
| RAB3GAP2 |
Martsolf syndrome, 212720 (3) Warburg micro syndrome 2, 614225 (3) |
| RAD50 |
Nijmegen breakage syndrome-like disorder, 613078 (3) |
| RAD51D |
{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) |
| RAG1 |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) Combined cellular and humoral immune defects with granulomas, 233650 (3) Omenn syndrome, 603554 (3) Severe combined immunodeficiency, B cell-negative, 601457 (3) |
| RAI1 |
Smith-Magenis syndrome, 182290 (3) |
| RASA1 |
Basal cell carcinoma, somatic, 605462 (3) Capillary malformation-arteriovenous malformation 1, 608354 (3) |
| RAX |
Microphthalmia, isolated 3, 611038 (3) |
| RB1CC1 |
Breast cancer, somatic, 114480 (3) |
| RBM20 |
Cardiomyopathy, dilated, 1DD, 613172 (3) |
| RBP3 |
?Retinitis pigmentosa 66, 615233 (3) |
| RECQL4 |
Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3) |
| RFX5 |
Bare lymphocyte syndrome, type II, complementation group C, 209920 (3) Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) |
| RGS9BP |
Bradyopsia, 608415 (3) |
| RHBDF2 |
Tylosis with esophageal cancer, 148500 (3) |
| RIN2 |
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) |
| RIPK4 |
CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3) |
| RNASEH2A |
Aicardi-Goutieres syndrome 4, 610333 (3) |
| RNF168 |
RIDDLE syndrome, 611943 (3) |
| RNF212 |
Recombination rate QTL 1, 612042 (3) |
| RNF213 |
{Moyamoya disease 2, susceptibility to}, 607151 (3) |
| ROBO3 |
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3) |
| ROM1 |
Retinitis pigmentosa 7, digenic form, 608133 (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) |
| RPGR |
Cone-rod dystrophy, X-linked, 1, 304020 (3) Macular degeneration, X-linked atrophic, 300834 (3) Retinitis pigmentosa 3, 300029 (3) Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3) |
| RPGRIP1 |
Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3) |
| RPL10 |
Mental retardation, X-linked, syndromic, 35, 300998 (3) {Autism, susceptibility to, X-linked 5}, 300847 (3) |
| RPS6KA3 |
Coffin-Lowry syndrome, 303600 (3) Mental retardation, X-linked 19, 300844 (3) |
| RTTN |
Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3) |
| RUNX2 |
Cleidocranial dysplasia, 119600 (3) Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3) Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3) Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (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) |
| SAG |
Oguchi disease-1, 258100 (3) Retinitis pigmentosa 47, 613758 (3) |
| SALL1 |
Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3) |
| SALL4 |
IVIC syndrome, 147750 (3) Duane-radial ray syndrome, 607323 (3) |
| SAMD9 |
MIRAGE syndrome, 617053 (3) Tumoral calcinosis, familial, normophosphatemic, 610455 (3) |
| SARDH |
[Sarcosinemia], 268900 (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) |
| SCN11A |
Episodic pain syndrome, familial, 3, 615552 (3) Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3) |
| SCN1A |
Febrile seizures, familial, 3A, 604403 (3) Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3) Migraine, familial hemiplegic, 3, 609634 (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) |
| SCN4A |
Hyperkalemic periodic paralysis, type 2, 170500 (3) Hypokalemic periodic paralysis, type 2, 613345 (3) Myasthenic syndrome, congenital, 16, 614198 (3) Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3) Paramyotonia congenita, 168300 (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) |
| 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) |
| SCNN1A |
Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) ?Liddle syndrome 3, 618126 (3) Pseudohypoaldosteronism, type I, 264350 (3) |
| SCO2 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3) |
| SDC3 |
{Obesity, association with}, 601665 (3) |
| SDHAF1 |
Mitochondrial complex II deficiency, 252011 (3) |
| SEC23A |
Craniolenticulosutural dysplasia, 607812 (3) |
| SERPINA3 |
Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3) |
| SERPINB6 |
?Deafness, autosomal recessive 91, 613453 (3) |
| SERPINF1 |
Osteogenesis imperfecta, type VI, 613982 (3) |
| SETBP1 |
Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3) |
| SETD2 |
Luscan-Lumish syndrome, 616831 (3) |
| SETX |
Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) |
| SFTPA2 |
Pulmonary fibrosis, idiopathic, 178500 (3) |
| SFTPB |
Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) |
| SFTPC |
Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3) |
| SGCD |
Cardiomyopathy, dilated, 1L, 606685 (3) Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3) |
| SGCG |
Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3) |
| SGSH |
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3) |
| SH2B3 |
Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Thrombocythemia, somatic, 187950 (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) |
| SIM1 |
Obesity, severe, 601665 (3) |
| SIX5 |
Branchiootorenal syndrome 2, 610896 (3) |
| SIX6 |
Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3) |
| SKI |
Shprintzen-Goldberg syndrome, 182212 (3) |
| SLC10A2 |
Bile acid malabsorption, primary, 613291 (3) |
| SLC12A1 |
Bartter syndrome, type 1, 601678 (3) |
| SLC12A3 |
Gitelman syndrome, 263800 (3) |
| SLC14A1 |
[Blood group, Kidd], 111000 (3) |
| SLC16A1 |
Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3) Erythrocyte lactate transporter defect, 245340 (3) Monocarboxylate transporter 1 deficiency, 616095 (3) |
| SLC20A2 |
Basal ganglia calcification, idiopathic, 1, 213600 (3) |
| SLC24A1 |
Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3) |
| SLC25A12 |
Epileptic encephalopathy, early infantile, 39, 612949 (3) |
| SLC25A15 |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) |
| SLC26A1 |
?Nephrolithiasis, calcium oxalate, 167030 (3) |
| SLC26A2 |
Atelosteogenesis, type II, 256050 (3) Achondrogenesis Ib, 600972 (3) De la Chapelle dysplasia, 256050 (3) Diastrophic dysplasia, 222600 (3) Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) Epiphyseal dysplasia, multiple, 4, 226900 (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) |
| SLC33A1 |
Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) Spastic paraplegia 42, autosomal dominant, 612539 (3) |
| SLC34A2 |
Pulmonary alveolar microlithiasis, 265100 (3) |
| SLC34A3 |
Hypophosphatemic rickets with hypercalciuria, 241530 (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) |
| SLC6A19 |
Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3) |
| SLC6A2 |
?Orthostatic intolerance, 604715 (3) |
| SLC6A5 |
Hyperekplexia 3, 614618 (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) |
| SMARCA2 |
Nicolaides-Baraitser syndrome, 601358 (3) |
| SMCHD1 |
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) Bosma arhinia microphthalmia syndrome, 603457 (3) |
| SMPD1 |
Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3) |
| SOBP |
Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3) |
| SOD2 |
{Microvascular complications of diabetes 6}, 612634 (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) |
| 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) |
| SPRY2 |
{?IgA nephropathy, susceptibility to, 3}, 616818 (3) |
| SPTA1 |
Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (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) |
| SSTR5 |
Somatostatin analog, resistance to (3) |
| ST3GAL3 |
?Epileptic encephalopathy, early infantile, 15, 615006 (3) Mental retardation, autosomal recessive 12, 611090 (3) |
| STIL |
Microcephaly 7, primary, autosomal recessive, 612703 (3) |
| STK4 |
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) |
| STOX1 |
Preeclampsia/eclampsia 4, 609404 (3) |
| STRC |
Deafness, autosomal recessive 16, 603720 (3) |
| STXBP2 |
Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) |
| SUCLA2 |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) |
| SUMO4 |
{Diabetes mellitus, insulin-dependent, 5}, 600320 (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) |
| TAC3 |
Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3) |
| TAF2 |
Mental retardation, autosomal recessive 40, 615599 (3) |
| TAS2R16 |
[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3) |
| TAS2R38 |
[Phenylthiocarbamide tasting], 171200 (3) |
| TAT |
Tyrosinemia, type II, 276600 (3) |
| TBC1D4 |
{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) |
| TBP |
{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3) |
| TBXA2R |
{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3) |
| TBXAS1 |
Ghosal hematodiaphyseal syndrome, 231095 (3) ?Thromboxane synthase deficiency, 614158 (1) |
| TCF3 |
Agammaglobulinemia 8, autosomal dominant, 616941 (3) |
| TCF4 |
Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3) |
| TCN2 |
Transcobalamin II deficiency, 275350 (3) |
| TCOF1 |
Treacher Collins syndrome 1, 154500 (3) |
| TDRD7 |
Cataract 36, 613887 (3) |
| TECPR2 |
Spastic paraplegia 49, autosomal recessive, 615031 (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) |
| TET2 |
Myelodysplastic syndrome, somatic, 614286 (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) |
| TGFB1 |
Camurati-Engelmann disease, 131300 (3) Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3) {Cystic fibrosis lung disease, modifier of}, 219700 (3) |
| TGFBR1 |
{Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3) Loeys-Dietz syndrome 1, 609192 (3) |
| TGM6 |
Spinocerebellar ataxia 35, 613908 (3) |
| TICAM1 |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (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) |
| TMEM237 |
Joubert syndrome 14, 614424 (3) |
| TMEM67 |
COACH syndrome, 216360 (3) Joubert syndrome 6, 610688 (3) Meckel syndrome 3, 607361 (3) Nephronophthisis 11, 613550 (3) ?RHYNS syndrome, 602152 (3) {Bardet-Biedl syndrome 14, modifier of}, 615991 (3) |
| TMIE |
Deafness, autosomal recessive 6, 600971 (3) |
| TMPRSS15 |
Enterokinase deficiency, 226200 (3) |
| TMPRSS3 |
Deafness, autosomal recessive 8/10, 601072 (3) |
| TMPRSS6 |
Iron-refractory iron deficiency anemia, 206200 (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) |
| TNFRSF11B |
Paget disease of bone 5, juvenile-onset, 239000 (3) |
| TNXB |
Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (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) |
| TPCN2 |
[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) |
| TPO |
Thyroid dyshormonogenesis 2A, 274500 (3) |
| TPRN |
Deafness, autosomal recessive 79, 613307 (3) |
| TRAF3 |
{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3) |
| TRAF3IP2 |
{Psoriasis susceptibility 13}, 614070 (3) ?Candidiasis, familial, 8, 615527 (3) |
| TRDN |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) |
| TREH |
Trehalase deficiency, 612119 (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) |
| TRIOBP |
Deafness, autosomal recessive 28, 609823 (3) |
| TRIP11 |
Achondrogenesis, type IA, 200600 (3) Osteochondrodysplasia, 184260 (3) |
| TRPM1 |
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) |
| TRPM7 |
{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3) |
| TRPV3 |
Olmsted syndrome, 614594 (3) ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3) |
| TSC1 |
Focal cortical dysplasia, type II, somatic, 607341 (3) Lymphangioleiomyomatosis, 606690 (3) Tuberous sclerosis-1, 191100 (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) |
| TSHB |
Hypothyroidism, congenital, nongoitrous 4, 275100 (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) |
| TSPYL1 |
Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) |
| TTC21B |
Nephronophthisis 12, 613820 (3) Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (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) |
| TUBGCP6 |
Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) |
| TULP1 |
Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3) |
| TXNRD2 |
?Glucocorticoid deficiency 5, 617825 (3) |
| TYR |
Albinism, oculocutaneous, type IA, 203100 (3) Albinism, oculocutaneous, type IB, 606952 (3) {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3) Waardenburg syndrome/albinism, digenic, 103470 (3) [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3) |
| UCHL1 |
Spastic paraplegia 79, autosomal recessive, 615491 (3) {?Parkinson disease 5, susceptibility to}, 613643 (3) |
| UCP1 |
{Obesity, susceptibility to}, 601665 (3) |
| UMPS |
Orotic aciduria, 258900 (3) |
| UNC80 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3) |
| UNC93B1 |
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (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) |
| VCAN |
Wagner syndrome 1, 143200 (3) |
| VDR |
?Osteoporosis, involutional, 166710 (1) Rickets, vitamin D-resistant, type IIA, 277440 (3) |
| VNN1 |
[High density lipoprotein cholesterol level QTL 8] (3) |
| VPS13B |
Cohen syndrome, 216550 (3) |
| VPS33B |
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) |
| VPS35 |
{Parkinson disease 17}, 614203 (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) |
| 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) |
| WIPF1 |
?Wiskott-Aldrich syndrome 2, 614493 (3) |
| WNK1 |
Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3) |
| WRAP53 |
Dyskeratosis congenita, autosomal recessive 3, 613988 (3) |
| WWC1 |
[Memory, enhanced, QTL], 615602 (3) |
| WWOX |
Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3) |
| XBP1 |
{Major affective disorder-7, susceptibility to}, 612371 (3) |
| XG |
[Blood group, XG system] (3) |
| XIAP |
Lymphoproliferative syndrome, X-linked, 2, 300635 (3) |
| XRCC1 |
?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3) |
| XRCC3 |
{Melanoma, cutaneous malignant, 6}, 613972 (3) {Breast cancer, susceptibility to}, 114480 (3) |
| XYLT1 |
Desbuquois dysplasia 2, 615777 (3) {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) |
| XYLT2 |
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) Spondyloocular syndrome, 605822 (3) |
| YY1 |
Gabriele-de Vries syndrome, 617557 (3) |
| ZBTB24 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3) |
| ZFHX3 |
Prostate cancer, somatic, 176807 (3) |
| ZFYVE26 |
Spastic paraplegia 15, autosomal recessive, 270700 (3) |
| ZFYVE27 |
Spastic paraplegia 33, autosomal dominant, 610244 (3) |
| ZIC2 |
Holoprosencephaly 5, 609637 (3) |
| ZIC3 |
Heterotaxy, visceral, 1, X-linked 306955 (3) Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) VACTERL association, X-linked, 314390 (3) |
| ZNF335 |
Microcephaly 10, primary, autosomal recessive, 615095 (3) |
| ZNF423 |
Joubert syndrome 19, 614844 (3) Nephronophthisis 14, 614844 (3) |
| ZNF469 |
Brittle cornea syndrome 1, 229200 (3) |
| ZNF750 |
Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) |
Genes at Clinical Genomics Database
A2M, A4GALT, AARS2, ABAT, ABCA1, ABCA12, ABCA3, ABCB1, ABCB11, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG8, ACAN, ACAT1, ACHE, ACOX1, ACP5, ACSF3, ACVR1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, ADAR, ADRB2, AGA, AGL, AGT, AHI1, AIP, AIPL1, AKAP9, ALAD, ALG12, ALG2, ALG8, ALK, ALMS1, ALOXE3, ALS2, ALS2CL, AMACR, AMH, ANKRD11, ANKRD26, ANKS6, ANO10, ANO5, ANTXR2, AP3B1, AP4E1, APC, APOA5, APOB, APP, AQP1, AR, ARHGAP31, ARID1A, ARL13B, ARSE, ASAH1, ASCL1, ASNS, ASPM, ASXL1, ATM, ATP1A3, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATRX, ATXN1, ATXN2, ATXN3, ATXN7, AUTS2, AXIN2, B9D1, B9D2, BAAT, BARD1, BBS10, BBS12, BBS2, BBS4, BCAM, BCKDHA, BCR, BEST1, BHLHE41, BICC1, BLVRA, BMP4, BRCA1, BRCA2, BRIP1, BRWD3, BUB1B, C5, C6, C7, C8A, C8B, CABP2, CACNA1A, CACNA1S, CACNA2D4, CARD14, CARD9, CASP10, CASP8, CASR, CC2D1A, CCDC14, CCDC39, CCDC50, CCDC88C, CCM2, CD19, CD207, CD27, CD3G, CD44, CDH15, CDH23, CDH3, CDK5RAP2, CDKN1B, CDON, CDT1, CENPJ, CEP135, CEP164, CEP290, CETP, CFH, CFI, CHAT, CHIT1, CHRNA2, CHRNB1, CHRND, CHSY1, CHUK, CIITA, CLCN1, CLCN2, CLCN7, CLCNKA, CLCNKB, CLN3, CNGB1, CNGB3, COCH, COG1, COG4, COG6, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A6, COL5A1, COL6A1, COL6A2, COL6A3, COL9A3, COQ2, COQ6, CORIN, COX4I2, CP, CPOX, CPS1, CPT2, CR1, CR2, CRELD1, CRYBB3, CRYGB, CSTA, CTC1, CTDP1, CTH, CTNNA3, CTNS, CTSA, CTSC, CUBN, CUL3, CUL7, CYBA, CYP1B1, CYP21A2, CYP2C8, CYP4F2, CYP4V2, D2HGDH, DAG1, DBT, DCC, DDC, DDOST, DFNB59, DGCR2, DHDDS, DHODH, DHTKD1, DIAPH1, DICER1, DKC1, DLL3, DMD, DMGDH, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI2, DNASE1, DNMT1, DOCK6, DOCK8, DOK7, DPAGT1, DPP6, DPYD, DSG1, DSG4, DSPP, DST, DUOX2, DUOXA2, DYNC2H1, EARS2, ECM1, EDAR, EDARADD, EDN1, EFEMP2, EFHC1, EGF, EIF2AK3, EIF2B5, EIF4G1, ELAC2, ELN, ELOVL4, EMG1, EP300, EPCAM, EPHX1, EPM2A, ERCC5, ERMAP, ESPN, ETFB, ETFDH, EVC, EXPH5, EYA4, EYS, EZH2, F12, F13A1, F13B, F5, F9, FAH, FAM161A, FAM20A, FAM20C, FAM83H, FANCA, FANCE, FANCI, FBLN1, FBN1, FBN2, FBP1, FBXO7, FGA, FGB, FIG4, FIGLA, FLG, FLNB, FLNC, FLT4, FMN2, FMO3, FN1, FOXC1, FOXE1, FRAS1, FREM1, FREM2, FRMD7, FUT3, FUT6, FYCO1, FZD6, GAA, GALC, GARS, GATA2, GATA6, GBE1, GCNT2, GDF1, GDF5, GFM1, GGCX, GHR, GIGYF2, GJA3, GJC2, GLB1, GLI2, GLI3, GLIS3, GM2A, GNPAT, GNPTAB, GORAB, GP1BA, GP6, GPC3, GPC6, GPSM2, GRIK2, GRIP1, GRM1, GRXCR1, GUCY2C, GUCY2D, GUSB, GYPA, GYS2, HADH, HADHB, HAL, HCN1, HCRT, HEXA, HEXB, HGD, HIBCH, HMCN1, HNF1A, HOXA1, HOXA13, HOXB1, HPD, HPS4, HPSE2, HRG, HSD17B4, HSD3B7, HSPG2, HTRA1, HTT, HYLS1, IDH3B, IDUA, IFIH1, IFITM5, IFNAR2, IFT140, IFT43, IFT88, IGFBP7, IGHMBP2, IKBKAP, IL10RA, IL10RB, IL12RB1, IL31RA, IL7R, ILDR1, IMPG2, INSL3, INSR, IQCB1, IQSEC2, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGB2, ITGB4, IYD, JUP, KANK1, KARS, KBTBD13, KCNC3, KCNE1, KCNH2, KCNJ11, KCNJ13, KCNJ5, KCNQ2, KCNQ4, KDM6A, KERA, KHDC3L, KIAA1033, KIF11, KIF1A, KIF7, KISS1R, KLF1, KLF11, KLK4, KLKB1, KMT2D, KNG1, KRT10, KRT13, KRT14, KRT3, KRT4, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC3, LBR, LCA5, LCT, LDLRAP1, LEPR, LHCGR, LIPC, LIPI, LIPN, LMAN1, LMBRD1, LMF1, LOXHD1, LPA, LPIN1, LPL, LRBA, LRIT3, LRP1, LRP2, LRP4, LRP5, LRRC6, LRRK2, LRSAM1, LTBP4, LYST, MAMLD1, MAN1B1, MAN2B1, MANBA, MAP3K1, MARVELD2, MASP2, MCCC1, MCEE, MCM4, MCM9, MCPH1, MECP2, MED12, MED17, MEFV, MEN1, MERTK, MESP2, MFRP, MKKS, MLC1, MLH1, MLH3, MLPH, MMP14, MMP20, MMP9, MNX1, MSH3, MSH6, MSX2, MTHFD1, MTHFR, MTPAP, MTRR, MTTP, MUSK, MUT, MYBPC1, MYBPC3, MYH11, MYH14, MYH3, MYH6, MYH7, MYH8, MYLK, MYO1A, MYO3A, MYO5A, MYO5B, MYO7A, MYOC, MYOT, MYPN, MYT1L, NAGLU, NARS2, NAT2, NBAS, NBEAL2, NBN, NCF4, NDUFA11, NDUFAF1, NDUFS2, NDUFS7, NEB, NEFH, NEUROD1, NEUROG3, NEXN, NGF, NHLRC1, NHS, NIN, NIPAL4, NIPBL, NKX2-5, NLRP1, NLRP7, NME8, NOBOX, NOD2, NODAL, NOTCH2, NOTCH3, NPAT, NPC1, NPHP4, NPHS1, NR3C1, NR3C2, NSD1, NT5E, NUP62, OBSL1, OCA2, OPA1, OPTN, ORAI1, ORC4, OTC, OTOA, OTOF, OTOG, OTOGL, PAH, PANK2, PARK2, PAX4, PCNT, PCSK9, PDE11A, PDE6A, PDE6B, PDE6C, PDHX, PDX1, PEPD, PEX10, PEX16, PEX2, PEX6, PFKM, PGM1, PHF8, PIGN, PIK3R2, PIKFYVE, PITPNM3, PKD1, PKD2, PKHD1, PLA2G4A, PLA2G7, PLAU, PLCB4, PLEC, PLEKHG5, PLIN1, PMS2, PNP, PNPLA1, PNPLA2, PNPLA6, PNPT1, POF1B, POLG, POMGNT1, POMT1, PON1, POU3F4, POU6F2, PPP1R3A, PRDM16, PRG4, PRKCSH, PRODH, PROP1, PROZ, PRPH2, PRSS12, PRSS56, PRX, PTCH1, PTPN14, PTPRQ, RAB3GAP1, RAB3GAP2, RAD50, RAD51D, RAG1, RAI1, RASA1, RAX, RB1CC1, RBM20, RBP3, RECQL4, RFX5, RGS9BP, RHBDF2, RIN2, RIPK4, RNASEH2A, RNF168, RNF213, ROBO3, ROM1, ROR2, RP1, RP1L1, RPGR, RPGRIP1, RPS6KA3, RTTN, RUNX2, RYR1, SAG, SALL1, SALL4, SAMD9, SCARF2, SCN11A, SCN1A, SCN1B, SCN4A, SCN5A, SCN9A, SCNN1A, SCO2, SDHAF1, SEC23A, SEPN1, SERPINA6, SERPINA7, SERPINB6, SERPINF1, SERPINF2, SETBP1, SETD2, SETX, SFTPA2, SFTPB, SFTPC, SGCD, SGCG, SGSH, SHANK3, SHROOM4, SI, SIX5, SIX6, SKI, SLC10A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC20A2, SLC24A1, SLC25A12, SLC25A15, SLC26A2, SLC29A3, SLC2A2, SLC2A9, SLC33A1, SLC34A2, SLC34A3, SLC39A13, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC6A19, SLC6A2, SLC6A5, SLC7A9, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLX4, SMARCA2, SMCHD1, SMPD1, SOBP, SP110, SPATA7, SPECC1L, SPG11, SPINK5, SPRY2, SPTA1, SPTB, SPTBN2, SSTR5, ST3GAL3, ST3GAL5, STIL, STK4, STRC, STXBP2, SUCLA2, SYNE1, SYNE2, TAC3, TAF2, TAS2R38, TAT, TBC1D4, TBP, TBXA2R, TBXAS1, TCF3, TCF4, TCN2, TCOF1, TDRD7, TECPR2, TECTA, TEK, TF, TFRC, TG, TGFB1, TGFBR1, TGM6, TICAM1, TJP2, TMC6, TMEM173, TMEM216, TMEM237, TMEM67, TMIE, TMPO, TMPRSS15, TMPRSS3, TMPRSS6, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNXB, TP53, TPCN2, TPO, TPRN, TRAF3, TRAF3IP2, TRDN, TREX1, TRIOBP, TRIP11, TRPM1, TRPV3, TSC1, TSEN34, TSEN54, TSHB, TSHR, TSPYL1, TTC21B, TTN, TUBGCP6, TULP1, TYR, UCHL1, UMPS, UNC80, UNC93B1, UPK3A, USH1C, USH1G, USH2A, UVSSA, VCAN, VDR, VPS13B, VPS35, VWF, WAS, WDR35, WDR62, WDR72, WDR81, WFS1, WIPF1, WNK1, WRAP53, WRN, WWOX, XG, XIAP, XYLT1, ZBTB24, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF423, ZNF469, ZNF592, ZNF750,| A2M |
Alpha-2-macroglobulin deficiency |
| A4GALT |
Blood group, P system |
| AARS2 |
Leukoencephalopathy, progressive, with ovarian failure |
| ABAT |
GABA-transaminase deficiency |
| 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 |
| ABCB1 |
Colchicine metabolism, association with |
| ABCB11 |
Cholestasis, progressive familial intrahepatic 2 |
| ABCC11 |
Apocrine gland secretion, variation in |
| ABCC2 |
Dubin-Johnson syndrome |
| ABCC6 |
Pseudoxanthoma elasticum |
| ABCC8 |
Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced |
| ABCD4 |
Methylmalonic aciduria and homocystinuria, cblJ type |
| ABCG8 |
Sitosterolemia |
| ACAN |
Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis |
| ACAT1 |
Alpha-methylacetoacetic aciduria |
| ACHE |
Blood group, Yt system |
| ACOX1 |
Peroxisomal acyl-CoA oxidase deficiency |
| ACP5 |
Spondyloenchondrodysplasia with immune dysregulation |
| ACSF3 |
Combined malonic and methylmalonic aciduria |
| ACVR1 |
Fibrodysplasia ossificans progressiva |
| ADAMTS10 |
Weill-Marchesani syndrome 1 |
| ADAMTS13 |
Thrombotic thrombocytopenic purpura, familial Schulman-Upshaw syndrome |
| ADAMTS17 |
Weill-Marchesani-like syndrome |
| ADAMTS18 |
Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive |
| ADAMTS2 |
Ehlers-Danlos syndrome, type VII |
| ADAMTSL4 |
Ectopia lentis, isolated, autosomal recessive |
| ADAR |
Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome 6 |
| ADRB2 |
Beta-2-adrenoreceptor agonist, reduced response to |
| AGA |
Aspartylglucosaminuria |
| AGL |
Glycogen storage disease III |
| AGT |
Renal tubular dysgenesis |
| AHI1 |
Joubert syndrome 3 |
| 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 |
| ALAD |
Porphyria, acute hepatic |
| 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 |
| ALOXE3 |
Ichthyosiform erythroderma, congenital, nonbullous, 1 |
| ALS2 |
Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2 |
| ALS2CL |
Schizophrenia |
| AMACR |
Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency |
| AMH |
Persistent Mullerian duct syndrome, type I |
| ANKRD11 |
KBG syndrome |
| ANKRD26 |
Thrombocytopenia 2 |
| ANKS6 |
Nephronophthisis 16 |
| ANO10 |
Spinocerebellar ataxia, autosomal recessive 10 |
| ANO5 |
Gnathodiaphyseal dysplasia |
| ANTXR2 |
Hyalinosis, infantile systemic Fibromatosis, juveline hyaline |
| AP3B1 |
Hermansky-Pudlak syndrome 2 |
| AP4E1 |
Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive |
| APC |
Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary |
| APOA5 |
Hyperchylomicronemia |
| APOB |
Hypobetalipoproteinemia, familial Hypercholesterolemia, familial |
| APP |
Alzheimer disease, familial Cerebral amyloid angiopathy |
| AQP1 |
Blood group, Colton |
| AR |
Androgen insensitivity Androgen insensitivity, partial |
| ARHGAP31 |
Adams-Oliver syndrome 1 |
| ARID1A |
Mental retardation, autosomal dominant 14 Coffin-Siris syndrome 2 |
| ARL13B |
Joubert syndrome 8 |
| ARSE |
Chondrodysplasia punctata 1, X-linked recessive |
| ASAH1 |
Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy |
| ASCL1 |
Central hypoventilation syndrome, congenital (Haddad syndrome) |
| ASNS |
Asparagine synthetase deficiency |
| ASPM |
Microcephaly, primary autosomal recessive, 5 |
| ASXL1 |
Bohring-Opitz syndrome |
| ATM |
Breast cancer, susceptibility to Ataxia-Telangiectasia |
| ATP1A3 |
Alternating hemiplegia of childhood 2 |
| ATP6V0A4 |
Renal tubular acidosis, distal, autosomal recessive |
| ATP7A |
Menkes disease |
| ATP7B |
Wilson disease |
| ATP8B1 |
Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy |
| ATR |
Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1 |
| ATRX |
Mental retardation-hypotonic facies syndrome, X-linked Juberg-Marsidi syndrome Carpenter-Waziri syndrome Holmes-Gang syndrome Smith-Fineman-Myers syndrome Alpha-thalassemia/mental retardation syndrome |
| ATXN1 |
Spinocerebellar ataxia 1 |
| ATXN2 |
Spinocerebellar ataxia 2 |
| ATXN3 |
Spinocerebellar ataxia 3 (Machado-Joseph disease) |
| ATXN7 |
Spinocerebellar ataxia 7 |
| AUTS2 |
Mental retardation, autosomal dominant 26 |
| AXIN2 |
Oligodontia-colorectal cancer syndrome |
| B9D1 |
Meckel syndrome 9 |
| B9D2 |
Meckel syndrome 10 |
| BAAT |
Hypercholanemia, familial |
| BARD1 |
Breast cancer, susceptibility to |
| BBS10 |
Bardet-Biedl syndrome 10 |
| 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 |
| BCKDHA |
Maple syrup urine disease, type Ia |
| BCR |
CML treatment, response to |
| BEST1 |
Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma |
| BHLHE41 |
Short sleeper |
| BICC1 |
Renal dysplasia, cystic, susceptibility to |
| BLVRA |
Hyperbiliverdinemia |
| BMP4 |
Microphthalmia, syndromic 6 Orofacial cleft 11 |
| BRCA1 |
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 |
| 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 |
| BRWD3 |
Mental retardation, X-linked 93 |
| BUB1B |
Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
| C5 |
Eculizumab, poor response to Complement component 5 deficiency |
| C6 |
Complement component 6 deficiency |
| C7 |
Complement component 7 deficiency |
| C8A |
Complement component 8 deficiency, type I |
| C8B |
Complement component 8 deficiency, type II |
| CABP2 |
Deafness, autosomal recessive 93 |
| CACNA1A |
Episodic ataxia, type 2 Migraine, familial hemiplegic 1 |
| CACNA1S |
Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1 |
| CACNA2D4 |
Retinal cone dystrophy 4 |
| CARD14 |
Psoriasis 2 |
| CARD9 |
Candidiasis, familial, 2 |
| CASP10 |
Autoimmune lymphoproliferative syndrome, type IIA |
| CASP8 |
Caspase 8 defiency |
| 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 |
| CC2D1A |
Mental retardation, autosomal recessive 3 |
| CCDC14 |
Hypotonia, infantile, with psychomotor retardation |
| CCDC39 |
Ciliary dyskinesia, primary, 14 |
| CCDC50 |
Deafness, autosomal dominant 44 |
| CCDC88C |
Spinocerebellar ataxia 40 |
| CCM2 |
Cerebral cavernous malformations 2 |
| CD19 |
Immunodeficiency, common variable 3 |
| CD207 |
Birbeck granule deficiency |
| CD27 |
Lymphoproliferative syndrome 2 |
| CD3G |
Immunodeficiency 17 |
| CD44 |
Blood group, Indian |
| CDH15 |
Mental retardation, autosomal dominant 3 |
| CDH23 |
Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic |
| CDH3 |
Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
| CDK5RAP2 |
Microcephaly, primary autosomal recessive, 3 |
| CDKN1B |
Multiple endocrine neoplasia, type IV |
| CDON |
Holoprosencephaly 11 |
| CDT1 |
Meier-Gorlin syndrome 4 |
| CENPJ |
Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6 |
| CEP135 |
Microcephaly 8, primary, autosomal recessive |
| CEP164 |
Nephronophthisis 15 |
| CEP290 |
Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 |
| CETP |
Hyperalphalipoproteinemia 1 |
| CFH |
Hemolytic uremic syndrome, atypical Complement factor H deficiency |
| CFI |
Hemolytic uremic syndrome, atypical Complement factor I deficiency |
| CHAT |
Myasthenic syndrome, congenital 6, presynaptic |
| CHIT1 |
Chitotriosidase deficiency |
| CHRNA2 |
Epilepsy, nocturnal frontal lobe, type 4 |
| CHRNB1 |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, slow-channel congenital, 2A |
| CHRND |
Myasthenic syndrome, congenital, fast channel Myasthenic syndrome,congenital, slow-channel Myasthenic syndrome, congenital, 3C |
| CHSY1 |
Temtamy preaxial brachydactyly syndrome |
| CHUK |
Cocoon syndrome |
| CIITA |
Bare lymphocyte syndrome, type II |
| CLCN1 |
Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior |
| CLCN2 |
Epilepsy, idiopathic, generalized, susceptibility to, 11 Epilepsy, juvenile, absence, suscepibility to, 2 Epilepsy, juvenile myoclonic, susceptibility to, 8 Leukoencephalopathy with ataxia |
| CLCN7 |
Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4 |
| CLCNKA |
Bartter syndrome, type 4, digenic |
| CLCNKB |
Bartter syndrome, type 4, digenic Bartter syndrome, type 3 |
| CLN3 |
Ceroid lipofuscinosis, neuronal, 3 |
| CNGB1 |
Retinitis pigmentosa 45 |
| CNGB3 |
Achromatopsia 3 Macular degeneration, juvenile |
| COCH |
Deafness, autosomal dominant 9 |
| COG1 |
Congenital disorder of glycosylation, type IIg |
| COG4 |
Congenital disorder of glycosylation, type IIj |
| COG6 |
Congenital disorder of glycosylation, type Iil |
| 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 |
| COL17A1 |
Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type |
| COL18A1 |
Knobloch syndrome 1 |
| COL1A1 |
Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VII, autosomal dominant |
| COL1A2 |
Ehlers-Danlos syndrome, cardiac valvular form |
| COL2A1 |
Otospondylomegaepiphyseal dysplasia Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary |
| COL3A1 |
Ehlers-Danlos syndrome, type IV |
| 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 |
| COL4A3 |
Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive |
| COL4A4 |
Alport syndrome, autosomal recessive |
| COL4A6 |
Deafness, X-linked, with cochlear malformation |
| 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 |
| COL9A3 |
Epiphyseal dysplasia, multiple, 3 |
| COQ2 |
Coenzyme Q10 deficiency 1 |
| COQ6 |
Coenzyme Q10 deficiency, primary 6 |
| CORIN |
Preeclampsia/eclampsia 5 |
| COX4I2 |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
| CP |
Aceruloplasminemia Hypoceruloplasminemia |
| CPOX |
Coproporphyria Harderoporphyria |
| CPS1 |
Carbamoylphosphate synthetase I deficiency |
| CPT2 |
Carnitine palmitoyltransferase II deficiency |
| CR1 |
Blood group, Knops system |
| CR2 |
Common variable immune deficiency, 7 |
| CRELD1 |
Atrioventricular septal defect, partial, with or without heterotaxy |
| CRYBB3 |
Cataract, congenital nuclear, autosomal recessive, 2 |
| CRYGB |
Cataract 39, multiple types |
| CSTA |
Peeling skin syndrome 4 |
| CTC1 |
Cerebroretinal microangiopathy with calcifications and cysts |
| CTDP1 |
Congenital cataracts, facial dysmorphism, and neuropathy |
| CTH |
Cystathioninuria |
| CTNNA3 |
Arrhythmogenic right ventricular dysplasia, familial, 13 |
| CTNS |
Cystinosis |
| CTSA |
Galactosialidosis |
| CTSC |
Haim-Munk syndrome Papillon-Lefevre syndrome Periodontitis 1, juvenile |
| CUBN |
Megaloblastic anemia-1, Finnish type |
| CUL3 |
Pseudohypoaldosteronism, type IIE |
| CUL7 |
Three M syndrome 1 Yakut short stature syndrome |
| CYBA |
Chronic granulomatous disease, autosomal, due to deficiency of CYBA |
| 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 |
| CYP2C8 |
Rhabdomyolysis, cerivastatin-induced |
| 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 |
| DBT |
Maple syrup urine disease, type II |
| DCC |
Mirror movements 1 |
| DDC |
Aromatic l-amino acid decarboxylase deficiency |
| DDOST |
Congenital disorder of glycosylation, type Ir |
| DFNB59 |
Deafness, autosomal recessive 59 |
| DGCR2 |
Schizophrenia |
| DHDDS |
Retinitis pigmentosa 59 |
| DHODH |
Postaxial acrofacial dysostosis (Miller syndrome) |
| DHTKD1 |
Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria |
| DIAPH1 |
Deafness, autosomal dominant 1 |
| DICER1 |
DICER1 syndrome |
| DKC1 |
Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome |
| DLL3 |
Spondylocostal dysostosis 1, autosomal recessive |
| DMD |
Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B |
| DMGDH |
Dimethylglycine dehydrogenase deficiency |
| 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 |
| DNAI2 |
Ciliary dyskinesia, primary, 9 |
| DNASE1 |
Macular dystrophy, North Carolina type |
| DNMT1 |
Neuropathy, hereditary sensory, type IE Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
| DOCK6 |
Adams-Oliver syndrome 2 |
| DOCK8 |
Hyper-IgE recurrent infection syndrome, autosomal recessive |
| DOK7 |
Myasthenic syndrome, congenital 10 |
| DPAGT1 |
Myasthenic syndrome, congenital, 13 Congenital disorder of glycosylation, type Ij (AR) |
| DPP6 |
Ventricular fibrillation, paroxysmal familial, 2 |
| DPYD |
5-fluorouracil toxicity |
| DSG1 |
Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome) |
| DSG4 |
Hypotrichosis 6 |
| DSPP |
Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II |
| DST |
Neuropathy, hereditary sensory and autonomic, type VI |
| DUOX2 |
Thyroid dyshormonogenesis 6 |
| DUOXA2 |
Thyroid dyshormonogenesis 5 |
| DYNC2H1 |
Short-rib thoracic dysplasia 3 with or without polydactyly |
| 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 |
| EDN1 |
Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3 |
| EFEMP2 |
Cutis laxa, autosomal recessive type IB |
| EFHC1 |
Epilepsy, myoclonic juvenile Epilepsy, juvenile absence, susceptibility to, 1 Epilepsy, severe intractable |
| EGF |
Hypomagnesemia 4, renal |
| 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 |
| ELAC2 |
Combined oxidative phosphorylation deficiency 17 |
| ELN |
Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis |
| ELOVL4 |
Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3 |
| EMG1 |
Bowen-Conradi syndrome |
| EP300 |
Rubinstein-Taybi syndrome 2 |
| EPCAM |
Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital |
| EPHX1 |
Hypercholanemia, familial |
| EPM2A |
Epilepsy, progressive myoclonic 2A (Lafora) |
| ERCC5 |
Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome |
| ERMAP |
Blood group, Scianna system Blood group, Radin |
| ESPN |
Deafness, autosomal dominant, without vestibular involvement Deafness, autosomal recessive 36 |
| ETFB |
Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II |
| ETFDH |
Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II |
| EVC |
Ellis-van Creveld syndrome Weyers acrofacial dysostosis |
| EXPH5 |
Epidermolysis bullosa, nonspecific, autosomal recessive |
| EYA4 |
Cardiomyopathy, dilated, 1J |
| EYS |
Retitinis pigmentosa 25 |
| EZH2 |
Weaver syndrome |
| F12 |
Angioedema, hereditary, type III |
| F13A1 |
Factor XIIIA deficiency |
| F13B |
Factor XIIIB deficiency |
| F5 |
Thrombophilia due to activated protein C resistance Factor V deficiency |
| F9 |
Hemophilia B Thrombophilia, X-linked, due to factor IX defect Warfarin sensitivity |
| FAH |
Tyrosinemia, type I |
| FAM161A |
Retitinis pigmentosa 28 |
| FAM20A |
Amelogenesis imperfecta, type IG (Enamel-renal syndrome) |
| FAM20C |
Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| FAM83H |
Amelogenesis imperfecta, type 3 |
| FANCA |
Fanconi anemia, complementation group A |
| FANCE |
Fanconi anemia, complementation group E |
| FANCI |
Fanconi anemia, complementation group I |
| FBLN1 |
Synpolydactyly 2 |
| FBN1 |
Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome |
| FBN2 |
Congenital contractural arachnodactyly (Beals syndrome) |
| FBP1 |
Fructose-1,6-bisphosphatase deficiency |
| FBXO7 |
Parkinson disease 15, autosomal recessive |
| FGA |
Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital Familial visceral amyloidosis |
| FGB |
Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital |
| FIG4 |
Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome |
| FIGLA |
Premature ovarian failure 6 |
| FLG |
Icthyosis vulgaris |
| FLNB |
Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III |
| FLNC |
Myopathy, distal, 4 Myopathy, myofibrillar, 5 |
| FLT4 |
Lymphedema, hereditary I (Milory disease) |
| 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 |
| FOXE1 |
Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism |
| 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 |
| FRMD7 |
Nystagmus, infantile periodic alternating, X-linked |
| FUT3 |
Blood group, Lewis |
| FUT6 |
Fucosyltransferase 6 deficiency |
| FYCO1 |
Cataract, autosomal recessive congenital 2 |
| FZD6 |
Nail disorder, nonsyndromic noncongenital 10 |
| GAA |
Glycogen storage disease II |
| GALC |
Krabbe disease |
| GARS |
Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V |
| GATA2 |
Acute myeloid leukemia, familial Immunodeficiency 21 Emberger syndrome Myelodysplastic syndrome Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia |
| GATA6 |
Heart defects, congenital, and other congenital anomalies |
| GBE1 |
Glycogen storage disease IV |
| GCNT2 |
Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype |
| GDF1 |
Double-outlet right ventricle Transposition of the great arteries, dextro-looped 3 |
| 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 |
| GFM1 |
Combined oxidative phosphorylation deficiency 1 |
| GGCX |
Vitamin K-dependent clotting factors, combined deficiency of, 1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
| GHR |
Growth hormone insensitivity syndrome (Laron syndrome) |
| GIGYF2 |
Parkinson disease, autosomal dominant, 11 |
| GJA3 |
Cataract 14, multiple types |
| 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 |
| 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 |
| GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism |
| GM2A |
GM2-gangliosidosis, AB variant |
| GNPAT |
Rhizomelic chondrodysplasia punctata, rhizomelic, type 2 |
| GNPTAB |
Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy) Mucolipidosis II alpha/beta (I-cell disease) |
| GORAB |
Geroderma osteodysplasticum |
| 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 |
| GPSM2 |
Chudley-McCullough syndrome Deafness, autosomal recessive 82 |
| GRIK2 |
Mental retardation, autosomal recessive 6 |
| GRIP1 |
Fraser syndrome |
| GRM1 |
Spinocerebellar ataxia, autosomal recessive 13 |
| GRXCR1 |
Deafness, autosomal recessive 25 |
| GUCY2C |
Diarrhea 6 Meconium ileus |
| GUCY2D |
Cone-rod dystrophy 6 Leber congenital amaurosis, type 1 Cone-Rod dystrophy, autosomal recessive |
| GUSB |
Mucopolysaccharidosis type VII |
| GYPA |
Blood group, MN locus Blood group, Erik |
| GYS2 |
Glycogen storage disease, type 0, liver |
| HADH |
3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4 |
| HADHB |
Trifunctional protein deficiency |
| HAL |
Histidinemia |
| HCN1 |
Epileptic encephalopathy, early infantile, 24 |
| HCRT |
Narcolepsy 1 |
| HEXA |
Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency |
| HEXB |
Sandhoff disease |
| HGD |
Alkaptonuria |
| HIBCH |
3-hydroxyisobutryl-CoA hydrolase deficiency |
| HMCN1 |
Macular degeneration, age-related, 1 |
| HNF1A |
Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III |
| HOXA1 |
Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome |
| HOXA13 |
Hand-foot-genital syndrome Guttmacher syndrome Hand-foot-uterus syndrome |
| HOXB1 |
Facial paresis, hereditary congenital, 3 |
| HPD |
Tyrosinemia, type III Hawksinuria |
| HPS4 |
Hermansky-Pudlak syndrome 4 |
| HPSE2 |
Ochoa syndrome Urofacial syndrome 1 |
| HRG |
Thrombophilia due to histidine-rich glycoprotein deficiency |
| HSD17B4 |
Perrault syndrome |
| HSD3B7 |
Bile acid synthesis defect, congenital, 1 |
| HSPG2 |
Schwartz-Jampel syndrome, type 1 |
| HTRA1 |
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) |
| HTT |
Huntington disease |
| HYLS1 |
Hydrolethalus syndrome |
| IDH3B |
Retinitis pigmentosa, autosomal recessive, IDH3B-related |
| IDUA |
Mucopolysaccharidosis type I |
| IFIH1 |
Singleton-Merten syndrome 1 |
| IFITM5 |
Osteogenesis imperfecta, type V |
| IFNAR2 |
Immunodeficiency 45 |
| IFT140 |
Short-rib thoracic dysplasia 9 with or without polydactyly |
| IFT43 |
Cranioectodermal dysplasia 3 |
| IFT88 |
Ciliopathy, IFT88-related |
| IGFBP7 |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
| IGHMBP2 |
Spinal muscular atrophy, distal, autosomal recessive, 1 Charcot-Marie-Tooth disease, axonal, type 2S |
| IKBKAP |
Dysautonomia, familial |
| IL10RA |
Inflammatory bowel disease 28, autosomal recessive |
| IL10RB |
Inflammatory bowel disease 25, early onset, autosomal recessive |
| IL12RB1 |
Immunodeficiency 30 |
| 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 |
| IMPG2 |
Retinitis pigmentosa 56 |
| INSL3 |
Cryptorchidism |
| INSR |
Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome |
| IQCB1 |
Senior-Loken syndrome 5 |
| IQSEC2 |
Mental retardation, X-linked 1 |
| ISCU |
Myopathy with lactic acidosis, hereditary |
| ISPD |
Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
| ITGA2B |
Glanzmann thrombasthenia |
| ITGA3 |
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa |
| ITGA7 |
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency |
| ITGB2 |
Leukocyte adhesion deficiency, type I |
| ITGB4 |
Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa simplex, Weber-Cockayne type |
| IYD |
Thyroid dyshormonogenesis 4 |
| JUP |
Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease |
| KANK1 |
Cerebral palsy, spastic quadriplegic, 2 |
| KARS |
Charcot-Marie-Tooth disease, recessive intermediate B |
| KBTBD13 |
Nemaline myopathy 6 |
| KCNC3 |
Spinocerebellar ataxia 13 |
| KCNE1 |
Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 |
| KCNH2 |
Long QT syndrome 2 Short QT syndrome 1 |
| KCNJ11 |
Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 2 Diabetes mellitus, transient neonatal, 3 Diabetes, permanent neonatal, with Neurologic features |
| KCNJ13 |
Snowflake vitreoretinal degeneration Leber congenital amaurosis 16 |
| KCNJ5 |
Long QT syndrome 13 Hyperaldosteronism, familial, type III |
| KCNQ2 |
Epileptic encephalopathy, early infantile, 7 Benign familial neonatal seizures, 1 Myokymia |
| KCNQ4 |
Deafness, autosomal dominant 2A |
| KDM6A |
Kabuki syndrome 2 |
| KERA |
Cornea plana 2, autosomal recessive |
| KHDC3L |
Hydatidiform mole, recurrent, 2 |
| KIAA1033 |
Mental retardation, autosomal recessive 43 |
| KIF11 |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KIF1A |
Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive |
| KIF7 |
Acrocallosal syndrome Hydrolethalus syndrome 2 Joubert syndrome 12 Al-Gazali-Bakalinova syndrome |
| KISS1R |
Hypogonadotropic hypogonadism 8 with or without anosmia |
| KLF1 |
Anemia, dyserythropoietic congenital, type IV Blood group, Lutheran inhibitor |
| KLF11 |
Maturity-onset diabetes of the young, type VII |
| KLK4 |
Amelogenesis imperfecta, type IIA1 |
| KLKB1 |
Prekallikrein deficiency |
| KMT2D |
Kabuki syndrome 1 |
| KNG1 |
High molecular weight kininogen deficiency |
| KRT10 |
Ichthyosis, cyclic, with epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Erythroderma, ichthyosiform, congenital reticular Aaru disease Ichthyosis with confetti |
| KRT13 |
White sponge nevus 2 |
| KRT14 |
Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex, autosomal recessive Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Dowling-Meara type |
| KRT3 |
Meesmann corneal dystrophy |
| KRT4 |
White sponge nevus 1 |
| 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 |
| LAMB2 |
Pierson syndrome Nephrotic syndrome, type 5, with or without ocular abnormalities |
| LAMC3 |
Cortical malformations, occipital |
| LBR |
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Reynolds syndrome Pelger-Huet anomaly Greenberg/HEM skeletal dysplasia |
| LCA5 |
Leber congenital amaurosis 5 |
| LCT |
Lactase deficiency, congenital |
| LDLRAP1 |
Hypercholesterolemia, familial, autosomal recessive |
| LEPR |
Leptin receptor deficiency |
| LHCGR |
Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male |
| LIPC |
Hepatic lipase deficiency |
| LIPI |
Hypertriglyceridemia, familial |
| LIPN |
Ichthyosis, congenital, autosomal recessive 8 |
| LMAN1 |
Combined factor V and VIII deficiency |
| LMBRD1 |
Methylmalonic aciduria and homocystinuria, cblF type |
| LMF1 |
Combined lipase deficiency |
| LOXHD1 |
Deafness, autosomal recessive 77 |
| LPA |
Lipoprotein A deficiency, congenital |
| LPIN1 |
Myoglobinuria, acute, recurrent, autosomal recessive |
| LPL |
Lipoprotein lipase deficiency Combined hyperlipidemia, familial Hyperlipoproteinemia, type I |
| LRBA |
Common variable immunodeficiency 8, with autoimmunity |
| LRIT3 |
Night blindness, congenital stationary (complete), 1F, 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 |
| LRRC6 |
Ciliary dyskinesia, primary 19 |
| LRRK2 |
Parkinson disease 8 Dementia, Lewy body |
| LRSAM1 |
Charcot-Marie-Tooth disease, axonal, type 2P |
| LTBP4 |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities |
| LYST |
Chediak-Higashi syndrome |
| MAMLD1 |
Hypospadias 2, X-linked |
| MAN1B1 |
Mental retardation, autosomal recessive 15 |
| MAN2B1 |
Mannosidosis, alpha B, lysosomal |
| MANBA |
Mannosidosis, beta A, lysosomal |
| MAP3K1 |
46,XY sex reversal 6 |
| MARVELD2 |
Deafness, autosomal recessive 49 |
| MASP2 |
MASP2 deficiency |
| MCCC1 |
3-Methylcrotonyl-CoA carboxylase 1 deficiency |
| MCEE |
Methylmalonyl-CoA epimerase deficiency |
| MCM4 |
Natural killer cell and glucocorticoid deficiency with DNA repair defect |
| MCM9 |
Ovarian dysgenesis 4 |
| MCPH1 |
Microcephaly, primary autosomal recessive, 1 |
| MECP2 |
Angelman-like syndrome Rett syndrome Encephalopathy, neonatal severe, due to MECP2 mutations Autism, X-linked 3 Mental retardation, X-lnked syndromic 13 Mental retardation, X-linked 79 |
| MED12 |
Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome |
| MED17 |
Microcephaly, postnatal progressive, with seizures and brain atrophy |
| MEFV |
Familial Mediterranean fever |
| MEN1 |
Hyperparathyroidism, familial primary Multiple endocrine neoplasia type I |
| MERTK |
Retinitis pigmentosa 38 |
| MESP2 |
Spondylocostal dysostosis 2, autosomal recessive |
| MFRP |
Retinitis pigmentosa, autosomal recessive Microphthalmia, isolated 5 Nanophthalmos 2 |
| MKKS |
McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 |
| MLC1 |
Megalencephalic leukoencephalopathy with subcortical cysts |
| MLH1 |
Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome Endometrial cancer Muir-Torre syndrome |
| MLH3 |
Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma |
| MLPH |
Griscelli syndrome, type 3 |
| MMP14 |
Winchester syndrome |
| MMP20 |
Amelogenesis imperfecta, hypomaturation type, IIA2 |
| MMP9 |
Metaphyseal anadysplasia 2 |
| MNX1 |
Currarino syndrome |
| MSH3 |
Endometrial carcinoma |
| MSH6 |
Mismatch repair cancer syndrome Endometrial cancer Colorectal cancer, hereditary nonpolyposis type 5 |
| MSX2 |
Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1 |
| MTHFD1 |
Severe combined immunodeficiency |
| MTHFR |
Homocystinuria due to MTHFR deficiency |
| MTPAP |
Spastic ataxia 4, autosomal recessive |
| MTRR |
Homocystinuria-megaloblastic anemia, cobalamin E type |
| MTTP |
Abetalipoproteinemia |
| MUSK |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
| MUT |
Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency |
| MYBPC1 |
Arthrogryposis, distal, type 1B Lethal congenital contractural syndrome 4 |
| MYBPC3 |
Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, dilated, 1MM Left ventricular noncompaction 10 |
| MYH11 |
Aortic aneurysm, familial thoracic 4 |
| MYH14 |
Deafness, autosomal dominant 4B Deafness, autosomal dominant 4 Peripheral neuropathy, myopathy, hoarseness, and hearing loss |
| MYH3 |
Arthrogryposis, distal, type 2A Arthyrgryposis, distal, type 2B Arthrogryposis, distal, type 8 |
| MYH6 |
Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14 |
| MYH7 |
Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated, 1S Myopathy, distal Myopathy, myosin storage, autosomal recessive |
| MYH8 |
Carney complex variant Arthrogryposis, distal, type 7 Trismus-pseudocamptodactyly syndrome |
| MYLK |
Aortic aneurysm, familial thoracic 7 |
| MYO1A |
Deafness, autosomal dominant 48 |
| 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 |
| MYOT |
Myopathy, myofibrillar, 3 |
| MYPN |
Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4 |
| MYT1L |
Mental retardation, autosomal dominant 39 |
| NAGLU |
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) |
| NARS2 |
Combined oxidative phosphorylation deficiency 24 |
| 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 |
| NDUFA11 |
Mitochondrial complex I deficiency |
| NDUFAF1 |
Mitochondrial complex I deficiency |
| NDUFS2 |
Mitochondrial complex I deficiency |
| NDUFS7 |
Leigh syndrome Mitochondrial complex I deficiency |
| NEB |
Nemaline myopathy 2 |
| NEFH |
Charcot-Marie-Tooth disease, axonal, type 2CC |
| NEUROD1 |
Maturity onset diabetes of the young 6 |
| NEUROG3 |
Diarrhea 4, malabsorptive, congenital |
| NEXN |
Cardiomyopathy, familial hypertrophic, 20 Cardiomyopathy, dilated, 1CC |
| NGF |
Neuropathy, hereditary sensory and autonomic, type V |
| NHLRC1 |
Epilepsy, progressive myoclonic 2B (Lafora) |
| NHS |
Nance-Horan syndrome Cataract 40 |
| NIN |
Seckel syndrome 7 |
| NIPAL4 |
Ichthyosis, congenital, autosomal recessive |
| NIPBL |
Cornelia de Lange syndrome 1 |
| NKX2-5 |
Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations Hypothyroidism, congenital nongoitrous, 5 |
| NLRP1 |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia |
| NLRP7 |
Hydatidiform mole, recurrent, 1 |
| NME8 |
Ciliary dyskinesia, primary, 6 |
| NOBOX |
Premature ovarian failure 5 |
| NOD2 |
Blau syndrome Sarcoidosis, early-onset |
| NODAL |
Heterotaxy, visceral, 5 |
| 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 |
| NPHP4 |
Nephronophthisis 4 Senior-Loken syndrome 4 |
| NPHS1 |
Nephrotic syndrome, type 1 |
| NR3C1 |
Glucocorticoid resistance |
| NR3C2 |
Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
| NSD1 |
Beckwith-Wiedemann syndrome Weaver syndrome Sotos syndrome |
| NT5E |
Calcification of joints and arteries |
| NUP62 |
Striatonigral degeneration, infantile |
| OBSL1 |
Three M syndrome 2 |
| OCA2 |
Skin/hair/eye pigmentation 1 Albinism, oculocutaneous, type II Albinism, brown oculocutaneous |
| OPA1 |
Glaucoma, normal tension, susceptibility to |
| OPTN |
Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E |
| ORAI1 |
Immunodeficiency 9 |
| ORC4 |
Meier-Gorlin syndrome 2 |
| OTC |
Ornithine transcarbamylase deficiency |
| OTOA |
Deafness, autosomal recessive 22 |
| OTOF |
Deafness, autosomal recessive 9 Neuropathy, autosomal recessive, 1 |
| OTOG |
Deafness, autosomal recessive 18B |
| OTOGL |
Deafness, autosomal recessive 84B |
| PAH |
Phenylketonuria Hyperphenylalaninemia, non-PKU mild |
| PANK2 |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Neurodegeneration with brain iron accumulation 1 |
| PARK2 |
Parkinson disease 2, autosomal recessive juvenile |
| PAX4 |
Diabetes mellitus |
| PCNT |
Microcephalic osteodysplastic primordial dwarfism, type II |
| PCSK9 |
Hypercholesterolemia, familial, 3 |
| PDE11A |
Pigmented nodular adrenocortical disease, primary, 2 |
| PDE6A |
Retinitis pigmentosa 43 |
| PDE6B |
Night blindness, congenital stationary, autosomal dominant 2 Retinitis pigmentosa 40 |
| PDE6C |
Cone dystrophy 4 |
| PDHX |
Pyruvate dehydrogenase E3-binding protein deficiency |
| PDX1 |
Pancreatic agenesis 1 Neonatal diabetes mellitus |
| PEPD |
Prolidase deficiency |
| PEX10 |
Peroxisome biogenesis disorder 6B Peroxisome biogenesis factor disorder 10 Adrenoleukodystrophy, neonatal Zellweger syndrome Ataxia, autosomal recessive |
| PEX16 |
Peroxisome biogenesis factor disorder 16 |
| PEX2 |
Peroxisome biogenesis disorder 5A Peroxisome biogenesis disorder 5B |
| PEX6 |
Heimler syndrome 2 |
| PFKM |
Glycogen storage disease VII |
| PGM1 |
Congenital disorder of glycosylation, type It |
| PHF8 |
Mental retardation syndrome, X-linked, Siderius type |
| PIGN |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| PIK3R2 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| PIKFYVE |
Corneal fleck dystrophy |
| PITPNM3 |
Cone-rod dystrophy 5 |
| PKD1 |
Polycystic kidney disease, adult type I |
| PKD2 |
Polycystic kidney disease 2 |
| PKHD1 |
Polycystic kidney disease, autosomal recessive |
| PLA2G4A |
Phospholipase A2, group IV A, deficiency of |
| PLA2G7 |
Platelet-activating factor acetylhydrolase deficiency |
| PLAU |
Quebec platelet disorder |
| PLCB4 |
Auriculocondylar syndrome 2 |
| 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 |
| PLEKHG5 |
Charcot-Marie-Tooth disease C, recessive intermediate Spinal muscular atrophy, distal, autosomal recessive, 4 |
| PLIN1 |
Lipodystrophy, familial partial, type 4 |
| PMS2 |
Mismatch repair cancer syndrome Colorectal cancer, hereditary nonpolyposis type 4 |
| PNP |
Purine nucleoside phosphorylase deficiency |
| PNPLA1 |
Ichthyosis, congenital, autosomal recessive 10 |
| PNPLA2 |
Neutral lipid storage disease with myopathy |
| PNPLA6 |
Boucher-Neuhauser syndrome Laurence-Moon syndrome Oliver-McFarlane syndrome |
| PNPT1 |
Deafness, autosomal recessive 70 |
| POF1B |
Premature ovarian failure 2B |
| 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 |
| POMGNT1 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 |
| 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 |
| PON1 |
Clopidogrel treatment, sensitivity to |
| POU3F4 |
Deafness, X-linked 2 |
| POU6F2 |
Wilms tumor 5 |
| PPP1R3A |
Insulin resistance, severe, digenic |
| PRDM16 |
Cardiomyopathy, dilated, ILL Left ventricular noncompaction 8 |
| PRG4 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| PRKCSH |
Polycystic liver disease |
| PRODH |
Hyperprolinemia, type I |
| PROP1 |
Pituitary hormone deficiency, combined, 2 |
| PROZ |
Protein Z deficiency |
| PRPH2 |
Retinitis punctata albescens Choriodal dystrophy, central areolar 2 Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7 |
| PRSS12 |
Mental retardation, autosomal recessive 1 |
| PRSS56 |
Microphthalmia, isolated 6 |
| PRX |
Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F |
| PTCH1 |
Basal cell nevus syndrome |
| PTPN14 |
Choanal atresia and lymphedema |
| PTPRQ |
Deafness, autosomal recessive 84 |
| RAB3GAP1 |
Warburg micro syndrome 1 |
| RAB3GAP2 |
Warburg micro syndrome 2 Martsolf syndrome |
| RAD50 |
Breast cancer, susceptibility to |
| RAD51D |
Ovarian cancer, familial, susceptibility to |
| RAG1 |
Omenn syndrome T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Combined cellular and humoral immune defects with granulomas |
| RAI1 |
Smith-Magenis syndrome |
| RASA1 |
Capillary malformation-arteriovenous malformation Parkes Weber syndrome Spinal arteriovenous anomalies |
| RAX |
Microphthalmia, isolated 3 |
| RB1CC1 |
Schizophrenia |
| RBM20 |
Cardiomyopathy, dilated, 1DD |
| RBP3 |
Retinitis pigmentosa 66 |
| RECQL4 |
Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome |
| RFX5 |
Bare lymphocyte syndrome, type II |
| RGS9BP |
Bradyopsia |
| RHBDF2 |
Tylosis with esophageal cancer |
| RIN2 |
Macrocephaly, alopecia, cutis laxa, and scoliosis |
| RIPK4 |
Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome |
| RNASEH2A |
Aicardi-Goutieres syndrome 4 |
| RNF168 |
RIDDLE syndrome |
| RNF213 |
Moyamoya disease 2 |
| ROBO3 |
Gaze palsy, horizontal, with progressive scoliosis |
| ROM1 |
Retinitis pigmentosa 7, digenic |
| 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 |
| RPGR |
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
| RPGRIP1 |
Leber congenital amaurosis 6 Cone-rod dystrophy 13 |
| RPS6KA3 |
Coffin-Lowry syndrome Mental retardation, X-linked 19 |
| RTTN |
Microcephaly, short stature, and polymicrogyria with or without seizures |
| RUNX2 |
Cleidocranial dysplasia Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly |
| 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) |
| SAG |
Retinitis pigmentosa 47 Oguchi disease 1 |
| SALL1 |
Townes-Brocks syndrome |
| SALL4 |
Duane-radial ray/Okohiro syndrome Acro-Renal-Ocular syndrome |
| SAMD9 |
Tumoral calcinosis, normophosphatemic |
| SCARF2 |
Van den Ende-Gupta syndrome |
| SCN11A |
Neuropathy, hereditary sensory and autonomic, type VI Episodic pain syndrome, familial, 3 |
| SCN1A |
Migraine, familial hemiplegic 3 |
| SCN1B |
Atrial fibrillation, familial 13 Brugada syndrome 5 |
| SCN4A |
Paramyotonia congenita Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Normokalemic potassium-sensitive periodic paralysis Malignant hyperthermia, susceptibility to Myasthenic syndrome, congenital, 16 Myotonia, potassium-aggravated |
| 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 |
| SCN9A |
Paroxysmal extreme pain disorder |
| SCNN1A |
Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 2 |
| SCO2 |
Leigh syndrome Myopia 6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy |
| SDHAF1 |
Mitochondrial complex II deficiency |
| SEC23A |
Craniolenticulosutural dysplasia |
| SEPN1 |
Muscular dystrophy, rigid spine, 1 Myopathy, congenital, with fiber-type disproportion |
| SERPINA6 |
Corticosteroid-binding globulin deficiency |
| SERPINA7 |
Thyroxine-binding globulin deficiency Thyroxine-binding globulin excess |
| SERPINB6 |
Deafness, autosomal recessive 91 |
| SERPINF1 |
Osteogenesis imperfecta, type VI |
| SERPINF2 |
Alpha-2-plasmin inhibitor deficiency |
| SETBP1 |
Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome |
| SETD2 |
Luscan-Lumish syndrome |
| SETX |
Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2 |
| SFTPA2 |
Pulmonary fibrosis, idiopathic |
| SFTPB |
Surfactant metabolism dysfunction, pulmonary 1 |
| SFTPC |
Surfactant metabolism dysfunction, pulmonary, 2 |
| SGCD |
Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, type 2F |
| SGCG |
Muscular dystrophy, limb-girdle, type 2C |
| SGSH |
Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) |
| SHANK3 |
Schizophrenia Phelan-McDermid syndrome |
| SHROOM4 |
Stocco dos Santos X-linked mental retardation syndrome |
| SI |
Sucrase-isomaltase deficiency, congenital |
| SIX5 |
Branchiootorenal syndrome 2 |
| SIX6 |
Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy |
| SKI |
Shprintzen-Goldberg syndrome |
| SLC10A2 |
Bile acid malabsorption, primary |
| SLC12A1 |
Bartter syndrome, antenatal, type 1 |
| SLC12A3 |
Gitelman syndrome |
| SLC14A1 |
Blood group, Kidd |
| SLC16A1 |
Hyperinsulinemic hypoglycemia, familial, 7 Erythrocyte lactate transporter defect Monocarboxylate transporter 1 deficiency (AR) |
| SLC20A2 |
Basal ganglia calcification, idiopathic, 1 |
| SLC24A1 |
Night blindness, congenital stationary, type 1D |
| SLC25A12 |
Hypomyelination, global cerebral |
| SLC25A15 |
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC26A2 |
Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4 |
| SLC29A3 |
Histiocytosis-lymphadenopathy plus syndrome |
| SLC2A2 |
Glycogen storage disease XI Neonatal diabetes mellitus Fanconi-Bickel syndrome |
| SLC2A9 |
Hypouricemia, renal, 2 |
| SLC33A1 |
Congenital cataracts, hearing loss, and neurodegeneration |
| SLC34A2 |
Pulmonary alveolar microlithiasis |
| SLC34A3 |
Hypophosphatemic rickets with hypercalciuria, hereditary |
| SLC39A13 |
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like |
| SLC39A4 |
Acrodermatitis enteropathica |
| SLC3A1 |
Cystinuria |
| 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 |
| SLC6A19 |
Hartnup disease |
| SLC6A2 |
Orthostatic intolerance |
| SLC6A5 |
Hyperekplexia 3 |
| 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 |
| SMARCA2 |
Nicolaides-Baraitser syndrome |
| SMCHD1 |
Facioscapulohumeral muscular dystrophy, type 2 |
| SMPD1 |
Niemann-Pick disease, type A Niemann-Pick disease, type B |
| SOBP |
Mental retardation, anterior maxillary protrusion, and strabismus |
| SP110 |
Hepatic venoocclusive disease with immunodeficiency |
| 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 |
| SPRY2 |
IgA nephropathy, susceptibility to, 3 |
| SPTA1 |
Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2 |
| SPTB |
Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic |
| SPTBN2 |
Spinocerebellar ataxia 5, autosomal dominant Spinocerebellar ataxia 14, autosomal recessive |
| SSTR5 |
Resistance to somatostatin treatment |
| ST3GAL3 |
Mental retardation, autosomal recessive 12 Epileptic encephalopathy, early infantile, 15 |
| ST3GAL5 |
Ganglioside GM3 synthase deficiency |
| STIL |
Microcephaly, primary autosomal recessive, 7 |
| STK4 |
T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations |
| STRC |
Deafness, autosomal recessive 16 |
| STXBP2 |
Hemophagocytic lymphohistiocytosis, familial 5 |
| SUCLA2 |
Mitochondrial DNA depletion syndrome 5 |
| SYNE1 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8 |
| SYNE2 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| TAC3 |
Hypogonadotropic hypogonadism |
| TAF2 |
Mental retardation, autosomal recessive 40 |
| TAS2R38 |
Thiourea tasting Phenylthiocarbamide tasting |
| TAT |
Tyrosinemia, type II |
| TBC1D4 |
Diabetes mellitus, noninsulin-dependent 5 |
| TBP |
Spinocerebellar ataxia 17 |
| TBXA2R |
Bleeding disorder, platelet-type 13, susceptibility to |
| TBXAS1 |
Ghosal hematodiaphyseal syndrome |
| TCF3 |
Agammaglobulinemia 8, autosomal dominant |
| TCF4 |
Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome |
| TCN2 |
Transcobalamin II deficiency |
| TCOF1 |
Treacher Collins syndrome 1 |
| TDRD7 |
Cataract, autosomal recessive congenital 4 |
| TECPR2 |
Spastic paraplegia 49, autosomal recessive |
| TECTA |
Deafness, autosomal recessive 21 Deafness, autosomal dominant 8/12 |
| TEK |
Venous malformations, multiple cutaneous and mucosal |
| TF |
Atransferrinemia |
| TFRC |
Immunodeficiency 46 |
| TG |
Thyroid dyshormonogenesis 3 |
| TGFB1 |
Camurati-Engelmann disease |
| TGFBR1 |
Loeys-Dietz syndrome, type 1A Loeys-Dietz syndrome, type 2A |
| TGM6 |
Spinocerebellar ataxia 35 |
| TICAM1 |
Herpes simplex encephalitis, susceptibility to, 4 |
| 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 |
| TMEM237 |
Joubert syndrome 14 |
| TMEM67 |
COACH syndrome Nephronophthisis 11 Meckel syndrome 3 Joubert syndrome 6 |
| TMIE |
Deafness, autosomal recessive 6 |
| TMPO |
Cardiomyopathy, dilated, 1T |
| TMPRSS15 |
Enterokinase deficiency |
| TMPRSS3 |
Deafness, autosomal recessive 10 Deafness, autosomal recessive 8 |
| TMPRSS6 |
Iron-refractory iron deficiency anemia |
| TNFRSF10B |
Squamous cell carcinoma, head and neck |
| TNFRSF11A |
Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7 |
| TNFRSF11B |
Paget disease of bone 5, juvenile |
| TNXB |
Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency |
| 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 |
| TPO |
Thyroid dyshormonogenesis 2A |
| TPRN |
Deafness, autosomal recessive 79 |
| TRAF3 |
Herpes simplex encephalitis, susceptibility to, 3 |
| TRAF3IP2 |
Candidiasis, familial 8 |
| 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 |
| TRPM1 |
Night blindness, congenital stationary, type 1C |
| TRPV3 |
Olmsted syndrome Palmoplantar keratoderma, nonepidermolytic focal 2 |
| TSC1 |
Tuberous sclerosis Lymphangioleiomyomatosis |
| TSEN34 |
Pontocerebellar hypoplasia type 2C |
| TSEN54 |
Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 |
| TSHB |
Hypothyroidism, congenital, nongoitrous, 4 |
| TSHR |
Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1 |
| TSPYL1 |
46, XY disorder of sex development Sudden infant death with dysgenesis of the testes syndrome |
| TTC21B |
Nephronophthisis 12 Short-rib thoracic dysplasia 4 with or without polydactyly |
| TTN |
Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G |
| TUBGCP6 |
Microcephaly and chorioretinopathy, autosomal recessive 1 |
| TULP1 |
Leber congenital amaurosis 15 Retinitis pigmentosa 14 |
| TYR |
Albinism, oculocutaneous, type IA Albinism, oculocutaneous, type IB |
| UCHL1 |
Parkinson disease 5, autosomal dominant Neurodegeneration with optic atropy, childhood-onset |
| UMPS |
Orotic aciduria |
| UNC80 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| UNC93B1 |
Herpes simplex encephalitis, susceptibility to, 1 |
| UPK3A |
Renal/urogenital adysplasia |
| USH1C |
Usher syndrome, type IC Deafness, autosomal recessive 18A |
| USH1G |
Usher syndrome, type 1G |
| USH2A |
Usher syndrome, type 2A |
| UVSSA |
UV-sensitive syndrome 3 |
| VCAN |
Wagner syndrome 1 |
| VDR |
Vitamin D-dependent rickets, type 2A |
| VPS13B |
Cohen syndrome |
| VPS35 |
Parkinson disease 17 |
| 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 |
| WIPF1 |
Wiskott-Aldrich syndrome 2 |
| WNK1 |
Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA |
| WRAP53 |
Dyskeratosis congenita, autosomal recessive 3 |
| WRN |
Werner syndrome |
| WWOX |
Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12 |
| XG |
XG blood group |
| XIAP |
Lymphoproliferative syndrome, X-linked, 2 |
| XYLT1 |
Desbuquois dysplasia 2 |
| ZBTB24 |
Immunodeficiency-Centromeric Instability-Facial Anomalies 2 |
| ZFYVE26 |
Spastic paraplegia 15 |
| ZFYVE27 |
Spastic paraplegia 33, autosomal dominant |
| ZIC2 |
Holoprosencephaly 5 |
| ZIC3 |
Congenital heart defects, nonsyndromic, 1, X-linked Heterotaxy, visceral, 1, X-linked VACTERL association, X-linked, with or without hydrocephalus |
| ZNF335 |
Microcephaly 10, primary, autosomal recessive |
| ZNF423 |
Joubert syndrome 19 Nephronophthisis 14 |
| ZNF469 |
Brittle cornea syndrome 1 |
| ZNF592 |
Spinocerebellar ataxia, autosomal recessive 5 |
| ZNF750 |
Seborrhea-like dermatitis with psoriasiform elements |
Genes at HGMD
Summary
Number of Variants: 3038
Number of Genes: 1496
A2M |
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 12 | rs226405
dbSNP Clinvar |
9248233 | 1184.0 | T | C | PASS | 1/1 | 41 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99780 | 0.99780 | 0.00235 | 0.91 | 0.00 | None None | None None None None | A2M|0.10920489|49.36% | ||||
A4GALT |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 22 | rs11541159
dbSNP Clinvar |
43089849 | 2581.0 | T | C | PASS | 0/1 | 244 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.35064 | 0.35060 | 0.40440 | 0.26 | 0.00 | None None | None None None None | A4GALT|0.02220674|73.08% | ||||
A4GNT |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 3 | rs2246945
dbSNP Clinvar |
137843476 | 2404.0 | G | T | PASS | 0/1 | 208 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.65375 | 0.65380 | 0.33946 | 0.93 | 0.00 | None None | None None None None | A4GNT|0.020635171|73.87% | ||||
AADACL2 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 3 | rs1972977
dbSNP Clinvar |
151463421 | 3046.0 | G | T | PASS | 1/1 | 105 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.70667 | 0.70670 | 0.30183 | 1.00 | 0.01 | None None | None None None None | AADACL2|0.001976057|91.06% | ||||
AARS2 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 6 | rs324136
dbSNP Clinvar |
44275011 | 10000.0 | T | C | PASS | 1/1 | 158 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.88898 | 0.88900 | 0.11341 | 0.96 | 0.00 | None None | None None None None | TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33% | ||||
ABAT |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs1731017
dbSNP Clinvar |
8839954 | 2280.0 | A | G | PASS | 1/1 | 78 | NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | MODERATE | MISSENSE | 0.50080 | 0.50080 | 0.48599 | 0.61 | 0.00 | None None | None None None None | ABAT|0.163825558|41.04% | ||||
ABCA1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 9 | rs2230808
dbSNP Clinvar |
107562804 | 1410.0 | T | C | PASS | 1/1 | 49 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.53834 | 0.53830 | 0.41496 | 0.61 | 0.03 | None None | None None None None | ABCA1|0.668333708|9.43% | ||||
ABCA10 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 17 | rs4968849
dbSNP Clinvar |
67178316 | 2613.0 | A | G | PASS | 1/1 | 90 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.71126 | 0.71130 | 0.24304 | 1.00 | 0.00 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
| View | ca-full_variant_table | 17 | rs11657804
dbSNP Clinvar |
67210992 | 2180.0 | T | C | PASS | 1/1 | 75 | NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | MODERATE | MISSENSE | 0.26158 | 0.26160 | 0.29885 | 0.30 | 0.12 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
| View | ca-full_variant_table | 17 | rs9909216
dbSNP Clinvar |
67212423 | 2902.0 | G | A | PASS | 1/1 | 100 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.58067 | 0.58070 | 0.34515 | 0.03 | 0.00 | None None | None None None None | ABCA10|0.002179826|90.49% | ||||
ABCA12 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 2 | rs7560008
dbSNP Clinvar |
215876166 | 1802.0 | A | T | PASS | 1/1 | 59 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99840 | 0.99840 | 0.00223 | 0.32 | 0.00 | None None | None None None None | ABCA12|0.403146751|20.59% | ||||
ABCA13 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 7 | rs1880738
dbSNP Clinvar |
48285485 | 723.0 | C | T | PASS | 0/1 | 94 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.40655 | 0.40650 | 0.35164 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs3931814
dbSNP Clinvar |
48349647 | 1171.0 | C | T | PASS | 0/1 | 156 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.10963 | 0.10960 | 0.11313 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs2222648
dbSNP Clinvar |
48318811 | 1044.0 | C | T | PASS | 0/1 | 89 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.85224 | 0.85220 | 0.22580 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs1880736
dbSNP Clinvar |
48315796 | 1512.0 | C | A | PASS | 0/1 | 132 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.81290 | 0.81290 | 0.30295 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs17547830
dbSNP Clinvar |
48313510 | 1027.0 | A | G | PASS | 0/1 | 95 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.18730 | 0.18730 | 0.30130 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs78575608
dbSNP Clinvar |
48312084 | 1085.0 | G | C | PASS | 0/1 | 95 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.02516 | 0.02516 | 0.04875 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs4917152
dbSNP Clinvar |
48506566 | 544.0 | A | G | PASS | 0/1 | 91 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.23083 | 0.23080 | 0.17826 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs4917153
dbSNP Clinvar |
48506642 | 588.0 | A | G | PASS | 0/1 | 80 | NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | MODERATE | MISSENSE | 0.23063 | 0.23060 | 0.17498 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | |||||
| View | ca-full_variant_table | 7 | rs6583448
dbSNP Clinvar |
48545976 | 2272.0 | A | G | PASS | 1/1 | 77 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 1.00000 | 1.00000 | 0.00 | None None | None None None None | ABCA13|0.04721773|63.52% | ||||||
ABCA2 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 9 | rs908828
dbSNP Clinvar |
139913239 | 2241.0 | T | G | PASS | 1/1 | 78 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 1.00000 | 1.00000 | 0.00008 | 1.00 | 0.00 | None None | None None None None | ABCA2|0.074227496|56.47% | ||||
ABCA3 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs141621969
dbSNP Clinvar |
2350115 | 1115.0 | G | T | PASS | 0/1 | 118 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00339 | 0.00340 | 0.00323 | 0.48 | 0.00 | None None | None None None None | ABCA3|0.043607901|64.64% | ||||
ABCB1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 7 | rs2032582
dbSNP Clinvar |
87160618 | 630.0 | A | C | PASS | 0/1 | 71 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.04872 | 0.61700 | 0.32193 | 1.00 | 0.00 | None None | None None None None | ABCB1|0.831468236|5.08% | ||||
ABCB11 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 2 | rs2287622
dbSNP Clinvar |
169830328 | 2804.0 | A | G | PASS | 1/1 | 97 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.58866 | 0.58870 | 0.40423 | 0.35 | 0.00 | None None | None None None None | ABCB11|0.25846736|30.88% | ||||
ABCC1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs45511401
dbSNP Clinvar |
16173232 | 990.0 | G | T | PASS | 0/1 | 126 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.01538 | 0.01538 | 0.04129 | 0.00 | 1.00 | None None | None None None None | ABCC1|0.091540799|52.94% | ||||
ABCC11 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs17822931
dbSNP Clinvar |
48258198 | 1586.0 | C | T | PASS | 0/1 | 153 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.30092 | 0.30090 | 0.09800 | 0.00 | 0.92 | None None | None None None None | ABCC11|0.006558104|83.99% | ||||
ABCC2 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 10 | rs927344
dbSNP Clinvar |
101544447 | 2546.0 | A | T | PASS | 1/1 | 88 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99461 | 0.99460 | 0.00654 | 1.00 | 0.00 | None None | None None None None | ABCC2|0.186653982|38.2% | ||||
ABCC6 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs879956688
dbSNP Clinvar |
16313512 | 152.0 | C | T | low_variant_fraction | 0/1 | 292 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00 | 0.83 | None None | None None None None | ABCC6|0.022547171|72.9% | |||||||
| View | ca-full_variant_table | 16 | rs2238472
dbSNP Clinvar |
16251599 | 1204.0 | C | T | PASS | 0/1 | 150 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.18131 | 0.18130 | 0.22395 | 0.18 | 0.01 | None None | None None None None | ABCC6|0.022547171|72.9% | ||||
| View | ca-full_variant_table | 16 | rs6416668
dbSNP Clinvar |
16271357 | 10000.0 | T | C | PASS | 1/1 | 118 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.96426 | 0.96430 | 0.03556 | 0.29 | 0.00 | None None | None None None None | ABCC6|0.022547171|72.9% | ||||
| View | ca-full_variant_table | 16 | rs8058694
dbSNP Clinvar |
16278863 | 970.0 | G | T | PASS | 1/1 | 34 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.33267 | 0.33270 | 0.45306 | 0.59 | 0.00 | None None | None None None None | ABCC6|0.022547171|72.9% | ||||
| View | ca-full_variant_table | 16 | rs12931472
dbSNP Clinvar |
16281007 | 1795.0 | A | G | PASS | 1/1 | 63 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.33946 | 0.33950 | 0.46398 | 0.77 | 0.00 | None None | None None None None | ABCC6|0.022547171|72.9% | ||||
ABCC8 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 11 | rs757110
dbSNP Clinvar |
17418477 | 1554.0 | C | A | PASS | 0/1 | 193 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.72644 | 0.72640 | 0.26144 | 0.63 | 0.00 | None None | None None None None | ABCC8|0.967482639|1.79% | ||||
ABCD4 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 14 | rs35073715
dbSNP Clinvar |
74759059 | 1077.0 | G | C | PASS | 0/1 | 116 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00919 | 0.00919 | 0.01961 | 0.17 | 0.05 | None None | None None None None | ABCD4|0.201608796|36.57% | ||||
ABCG8 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 2 | rs6544718
dbSNP Clinvar |
44104925 | 10000.0 | T | C | PASS | 1/1 | 207 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.92292 | 0.92290 | 0.16277 | 1.00 | 0.00 | None None | None None None None | ABCG8|0.174377842|39.74% | ||||
| View | ca-full_variant_table | 2 | rs4148211
dbSNP Clinvar |
44071743 | 753.0 | A | G | PASS | 0/1 | 87 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.43470 | 0.43470 | 0.32085 | 0.01 | 0.09 | None None | None None None None | ABCG8|0.174377842|39.74% | ||||
ABL1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 9 | rs201725154
dbSNP Clinvar |
133759489 | 370.0 | CAAG | C | low_variant_fraction | 0/1 | 220 | CODON_CHANGE_PLUS_CODON_DELETION | MODERATE | None None | None None None None | ABL1|0.915754224|3.1% | ||||||||||
AC135048.1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs12443627
dbSNP Clinvar |
30996872 | 952.0 | G | C | off_target | 1/1 | 34 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.50200 | 0.50200 | 0.00 | None None | None None None None | HSD3B7|0.090377296|53.14% | ||||||
AC137932.1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs9635535
dbSNP Clinvar |
89334787 | 948.0 | C | T | off_target | 0/1 | 91 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.86 | None None | None None None None | ANKRD11|0.017604248|75.55% | ||||||||
ACACB |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 12 | rs2075260
dbSNP Clinvar |
109696838 | 10000.0 | G | A | PASS | 1/1 | 181 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.73882 | 0.73880 | 0.21898 | 1.00 | 0.00 | None None | None None None None | ACACB|0.108212697|49.54% | ||||
ACAD10 |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 12 | rs374524601
dbSNP Clinvar |
112186211 | 2017.0 | T | C | PASS | 0/1 | 175 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00008 | 0.00 | 0.99 | None None | None None None None | ACAD10|0.026374196|71.16% | ||||||
ACAD11 |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 3 | rs821572
dbSNP Clinvar |
132360883 | 2035.0 | C | T | PASS | 1/1 | 70 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 1.00000 | 1.00000 | 1.00 | 0.00 | None None | None None None None | ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02% | |||||
ACAN |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 15 | . | 89399742 | 286.0 | C | T | low_variant_fraction | 0/1 | 814 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.45 | 0.01 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | rs1042630
dbSNP Clinvar |
89402051 | 2111.0 | A | G | PASS | 0/1 | 212 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.64597 | 0.64600 | 0.26503 | 0.20 | 0.01 | None None | None None None None | ACAN|0.017538305|75.58% | ||||
| View | ca-full_variant_table | 15 | rs4932439
dbSNP Clinvar |
89401109 | 1776.0 | A | G | PASS | 0/1 | 166 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.76038 | 0.76040 | 0.13224 | 1.00 | 0.01 | None None | None None None None | ACAN|0.017538305|75.58% | ||||
| View | ca-full_variant_table | 15 | rs377697360
dbSNP Clinvar |
89400097 | 114.0 | T | G | low_variant_fraction | 0/1 | 158 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 1.00 | 0.01 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | rs28559926
dbSNP Clinvar |
89400043 | 174.0 | G | C | low_variant_fraction | 0/1 | 279 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.11841 | 0.11840 | 0.44 | 0.00 | None None | None None None None | ACAN|0.017538305|75.58% | |||||
| View | ca-full_variant_table | 15 | rs35430524
dbSNP Clinvar |
89398553 | 1233.0 | C | A | PASS | 0/1 | 135 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.09724 | 0.09724 | 0.07298 | 0.04 | 0.05 | None None | None None None None | ACAN|0.017538305|75.58% | ||||
| View | ca-full_variant_table | 15 | rs12899191
dbSNP Clinvar |
89400023 | 332.0 | A | G | low_variant_fraction | 0/1 | 301 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.63 | 0.34 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | rs201822759
dbSNP Clinvar |
89399986 | 1377.0 | C | G | PASS | 0/1 | 394 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.04433 | 0.04433 | 0.61 | 0.13 | None None | None None None None | ACAN|0.017538305|75.58% | |||||
| View | ca-full_variant_table | 15 | . | 89399929 | 114.0 | C | G | low_variant_fraction | 0/1 | 607 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.47 | 0.24 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399913 | 186.0 | C | T | low_variant_fraction | 0/1 | 637 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.55 | 0.15 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399856 | 252.0 | C | T | low_variant_fraction | 0/1 | 652 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.58 | 0.11 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399799 | 255.0 | C | T | low_variant_fraction | 0/1 | 718 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.16 | 0.07 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399571 | 169.0 | C | T | low_variant_fraction | 0/1 | 681 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.29 | 0.14 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399628 | 222.0 | C | T | low_variant_fraction | 0/1 | 716 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.24 | 0.00 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
| View | ca-full_variant_table | 15 | . | 89399685 | 426.0 | C | T | low_variant_fraction | 0/1 | 783 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.28 | 0.00 | None None | None None None None | ACAN|0.017538305|75.58% | |||||||
ACAT1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 11 | rs3741056
dbSNP Clinvar |
107992346 | 1081.0 | G | C | PASS | 0/1 | 138 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.33187 | 0.33190 | 0.20971 | 0.02 | 0.10 | None None | None None None None | ACAT1|0.138678583|44.58% | ||||
ACAT2 |
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| Options | Individual |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 6 | rs25683
dbSNP Clinvar |
160196343 | 10000.0 | A | G | PASS | 1/1 | 131 | NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | MODERATE | MISSENSE | 0.36522 | 0.36520 | 0.45433 | 0.04 | 0.82 | None None | None None None None | ACAT2|0.090493467|53.12% | ||||
ACCS |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 11 | rs33952257
dbSNP Clinvar |
44089352 | 926.0 | G | A | PASS | 0/1 | 109 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.26737 | 0.26740 | 0.24174 | 0.25 | 0.00 | None None | None None None None | ACCS|0.034927707|67.49% | ||||
| View | ca-full_variant_table | 11 | rs3107275
dbSNP Clinvar |
44104981 | 987.0 | C | T | PASS | 0/1 | 126 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.40375 | 0.40380 | 0.41512 | 0.23 | 0.03 | None None | None None None None | ACCS|0.034927707|67.49% | ||||
ACHE |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 7 | rs1799806
dbSNP Clinvar |
100488658 | 10000.0 | G | C | PASS | 0/1 | 412 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.26937 | 0.26940 | 0.34119 | 0.38 | 0.00 | None None | None None None None | ACHE|0.455026425|17.93% | ||||
ACOX1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 17 | rs1135640
dbSNP Clinvar |
73949540 | 10000.0 | G | C | PASS | 1/1 | 136 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.55072 | 0.55070 | 0.49131 | 0.17 | 0.01 | None None | None None None None | ACOX1|0.181440529|38.86% | ||||
ACP5 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 19 | rs2229531
dbSNP Clinvar |
11687195 | 1530.0 | C | T | PASS | 0/1 | 202 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.07129 | 0.07129 | 0.08214 | 0.01 | 0.68 | None None | None None None None | ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32% | ||||
| View | ca-full_variant_table | 19 | rs2305799
dbSNP Clinvar |
11687351 | 1229.0 | C | T | PASS | 0/1 | 141 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.08127 | 0.08127 | 0.09196 | 0.10 | 0.32 | None None | None None None None | ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32% | ||||
ACSF3 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs7188200
dbSNP Clinvar |
89167094 | 1281.0 | T | C | PASS | 0/1 | 131 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.62440 | 0.62440 | 0.27 | 0.00 | None None | None None None None | ACSF3|0.012049699|79.2% | |||||
| View | ca-full_variant_table | 16 | rs11547019
dbSNP Clinvar |
89167138 | 1683.0 | G | C | PASS | 0/1 | 171 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.05631 | 0.05631 | 0.02845 | 0.08 | 0.00 | None None | None None None None | ACSF3|0.012049699|79.2% | ||||
| View | ca-full_variant_table | 16 | rs3743979
dbSNP Clinvar |
89180883 | 2469.0 | G | A | PASS | 0/1 | 215 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.62959 | 0.62960 | 0.29186 | 0.10 | 0.01 | None None | None None None None | ACSF3|0.012049699|79.2% | ||||
ACVR1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 2 | rs13406336
dbSNP Clinvar |
158655962 | 184.0 | G | C | low_coverage | 0/1 | 19 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00739 | 0.00739 | 0.00615 | 0.04 | 0.01 | None None | None None None None | ACVR1|0.908763541|3.27% | ||||
ADAM12 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 10 | rs3740199
dbSNP Clinvar |
128019025 | 1875.0 | C | G | PASS | 1/1 | 63 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.00140 | 0.00140 | 0.42803 | 0.33 | 0.00 | None None | None None None None | ADAM12|0.075293986|56.23% | ||||
ADAM19 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 5 | rs10067096
dbSNP Clinvar |
156917340 | 1115.0 | A | C | PASS | 0/1 | 123 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.12041 | 0.12040 | 0.19660 | 0.30 | 0.12 | None None | None None None None | ADAM19|0.121857186|47.16% | ||||
| View | ca-full_variant_table | 5 | rs11465228
dbSNP Clinvar |
157002695 | 957.0 | C | T | PASS | 0/1 | 85 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.05931 | 0.05931 | 0.05824 | 0.42 | 0.16 | None None | None None None None | ADAM19|0.121857186|47.16% | ||||
| View | ca-full_variant_table | 5 | rs1422795
dbSNP Clinvar |
156936364 | 3094.0 | T | C | PASS | 1/1 | 106 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.41454 | 0.41450 | 0.42873 | 0.23 | 0.29 | None None | None None None None | ADAM19|0.121857186|47.16% | ||||
| View | ca-full_variant_table | 5 | rs11134767
dbSNP Clinvar |
156908653 | 383.0 | C | T | off_target | 0/1 | 23 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.02356 | 0.02356 | 0.04737 | 0.90 | 0.01 | None None | None None None None | ADAM19|0.121857186|47.16% | ||||
ADAM7 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 8 | rs13255694
dbSNP Clinvar |
24339679 | 1727.0 | G | A | PASS | 1/1 | 58 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.26138 | 0.26140 | 0.26096 | 0.00 | 1.00 | None None | None None None None | ADAM7|0.013206563|78.36% | ||||
| View | ca-full_variant_table | 8 | rs13259668
dbSNP Clinvar |
24356818 | 1103.0 | A | C | PASS | 1/1 | 37 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.32628 | 0.32630 | 0.33046 | 0.08 | 0.00 | None None | None None None None | ADAM7|0.013206563|78.36% | ||||
ADAMTS1 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 21 | rs428785
dbSNP Clinvar |
28216595 | 3025.0 | C | G | PASS | 1/1 | 109 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.68910 | 0.68910 | 0.18987 | 0.25 | 0.00 | None None | None None None None | ADAMTS1|0.304173311|27.34% | ||||
ADAMTS10 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 19 | rs62621197
dbSNP Clinvar |
8670147 | 3214.0 | C | T | PASS | 0/1 | 285 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.01717 | 0.01717 | 0.03055 | 0.10 | 0.02 | None None | None None None None | ADAMTS10|0.099701531|51.23% | ||||
| View | ca-full_variant_table | 19 | rs3814291
dbSNP Clinvar |
8669976 | 2328.0 | C | T | PASS | 0/1 | 226 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.01118 | 0.01118 | 0.00062 | 0.29 | 0.36 | None None | None None None None | ADAMTS10|0.099701531|51.23% | ||||
| View | ca-full_variant_table | 19 | rs7255721
dbSNP Clinvar |
8669931 | 10000.0 | G | C | PASS | 1/1 | 164 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.89397 | 0.89400 | 0.21830 | 1.00 | 0.00 | None None | None None None None | ADAMTS10|0.099701531|51.23% | ||||
| View | ca-full_variant_table | 19 | rs7252299
dbSNP Clinvar |
8645786 | 10000.0 | A | C | PASS | 1/1 | 148 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99980 | 0.99980 | 0.00015 | 1.00 | 0.00 | None None | None None None None | ADAMTS10|0.099701531|51.23% | ||||
ADAMTS13 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 9 | rs2301612
dbSNP Clinvar |
136301982 | 1783.0 | C | G | PASS | 0/1 | 147 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.27157 | 0.27160 | 0.30130 | 1.00 | 0.00 | None None | None None None None | ADAMTS13|0.009367264|81.4% | ||||
ADAMTS17 |
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 15 | rs7496668
dbSNP Clinvar |
100821576 | 2316.0 | G | A | PASS | 0/1 | 190 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.48463 | 0.48460 | 0.36257 | 0.16 | 0.00 | None None | None None None None | ADAMTS17|0.138524801|44.61% | ||||
| View | ca-full_variant_table | 15 | rs2573652
dbSNP Clinvar |
100514614 | 10000.0 | T | C | PASS | 1/1 | 190 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.67951 | 0.67950 | 0.28556 | 1.00 | 0.00 | None None | None None None None | ADAMTS17|0.138524801|44.61% | ||||
| View | ca-full_variant_table | 15 | rs28567966
dbSNP Clinvar |
100692845 | 1699.0 | A | G | PASS | 0/1 | 174 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.14577 | 0.14580 | 0.16608 | 0.92 | 0.00 | None None | None None None None | ADAMTS17|0.138524801|44.61% | ||||
ADAMTS18 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
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Pos
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Alt
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Gen
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 16 | rs11643211
dbSNP Clinvar |
77401545 | 1989.0 | A | G | PASS | 0/1 | 183 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.36681 | 0.36680 | 0.25262 | 0.41 | 0.35 | None None | None None None None | ADAMTS18|0.112557021|48.75% | ||||
| View | ca-full_variant_table | 16 | rs11640912
dbSNP Clinvar |
77359919 | 1651.0 | A | T | PASS | 0/1 | 121 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.43950 | 0.43950 | 0.31887 | 0.00 | 0.01 | None None | None None None None | ADAMTS18|0.112557021|48.75% | ||||
| View | ca-full_variant_table | 16 | rs9930984
dbSNP Clinvar |
77353973 | 2814.0 | G | T | PASS | 0/1 | 236 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.63498 | 0.63500 | 0.48561 | 0.12 | 0.00 | None None | None None None None | ADAMTS18|0.112557021|48.75% | ||||
| View | ca-full_variant_table | 16 | rs3743749
dbSNP Clinvar |
77323235 | 1698.0 | C | G | PASS | 0/1 | 177 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.18191 | 0.18190 | 0.16467 | 0.01 | 0.12 | None None | None None None None | ADAMTS18|0.112557021|48.75% | ||||
ADAMTS2 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
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Pos
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Qual
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Ref
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Alt
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Filter |
Gen
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 5 | rs1054480
dbSNP Clinvar |
178540975 | 1500.0 | G | A | PASS | 0/1 | 161 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.26378 | 0.26380 | 0.22174 | 0.71 | 0.08 | None None | None None None None | ADAMTS2|0.325728261|25.76% | ||||
| View | ca-full_variant_table | 5 | rs752142266
dbSNP Clinvar |
178772259 | 213.0 | GGCA | G | low_variant_fraction | 0/1 | 340 | CODON_CHANGE_PLUS_CODON_DELETION | MODERATE | 0.22973 | None None | None None None None | ADAMTS2|0.325728261|25.76% | |||||||||
ADAMTSL3 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
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Pos
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Qual
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Ref
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Alt
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Filter |
Gen
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Read Depth | Effect | Impact | Func Class |
1kgenomes
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dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 15 | rs4483821
dbSNP Clinvar |
84488636 | 1525.0 | A | G | PASS | 0/1 | 191 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.67931 | 0.67930 | 0.43749 | 0.57 | 0.00 | None None | None None None None | ADAMTSL3|0.040550889|65.6% | ||||
| View | ca-full_variant_table | 15 | rs2277849
dbSNP Clinvar |
84639350 | 2312.0 | C | T | PASS | 0/1 | 201 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.26038 | 0.26040 | 0.29263 | 0.04 | 0.50 | None None | None None None None | ADAMTSL3|0.040550889|65.6% | ||||
| View | ca-full_variant_table | 15 | rs4842838
dbSNP Clinvar |
84582124 | 1482.0 | G | T | PASS | 0/1 | 172 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.68570 | 0.68570 | 0.38182 | 1.00 | 0.00 | None None | None None None None | ADAMTSL3|0.040550889|65.6% | ||||
ADAMTSL4 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
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Pos
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Qual
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Ref
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Alt
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Filter |
Gen
|
Read Depth | Effect | Impact | Func Class |
1kgenomes
|
dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 1 | rs41317515
dbSNP Clinvar |
150526044 | 10000.0 | G | C | PASS | 1/1 | 131 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.52836 | 0.52840 | 0.45295 | 0.61 | 0.00 | None None | None None None None | ADAMTSL4|0.034322056|67.68% | ||||
ADAR |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
|
Pos
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Qual
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Ref
|
Alt
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Filter |
Gen
|
Read Depth | Effect | Impact | Func Class |
1kgenomes
|
dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 1 | rs1466731
dbSNP Clinvar |
154574820 | 10000.0 | T | C | PASS | 1/1 | 171 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.99621 | 0.99620 | 0.00431 | 0.28 | 0.00 | None None | None None None None | ADAR|0.149816666|43.06% | ||||
| View | ca-full_variant_table | 1 | rs2229857
dbSNP Clinvar |
154573967 | 10000.0 | T | C | PASS | 1/1 | 143 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.62260 | 0.62260 | 0.39213 | 0.67 | 0.00 | None None | None None None None | ADAR|0.149816666|43.06% | ||||
ADCY3 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
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Pos
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Qual
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Ref
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Alt
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Filter |
Gen
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Read Depth | Effect | Impact | Func Class |
1kgenomes
|
dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 2 | rs11676272
dbSNP Clinvar |
25141538 | 2580.0 | A | G | PASS | 0/1 | 221 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.56689 | 0.56690 | 0.40335 | 0.42 | 0.00 | None None | None None None None | ADCY3|0.184618724|38.39% | ||||
ADD1 |
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| Omim - GeneCards - NCBI | |||||||||||||||||||||||||
| Options | Individual |
Chr
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RsId
|
Pos
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Qual
|
Ref
|
Alt
|
Filter |
Gen
|
Read Depth | Effect | Impact | Func Class |
1kgenomes
|
dbSNP | ESP6500 | Sift | PP2 | CADD | M-CAP | CLINVAR | HI Score | |||
| View | ca-full_variant_table | 4 | rs4961
dbSNP Clinvar |
2906707 | 3092.0 | G | T | PASS | 0/1 | 321 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.20847 | 0.20850 | 0.15800 | 0.01 | 0.97 | None None | None None None None | ADD1|0.123826838|46.84% | ||||
| View | ca-full_variant_table | 4 | rs4963
dbSNP Clinvar |
2916762 | 2120.0 | C | G | PASS | 0/1 | 194 | NON_SYNONYMOUS_CODING | MODERATE | MISSENSE | 0.23782 | 0.23780 | 0.18138 | 0.18 | 0.69 | None None | None None None None | ADD1|0.123826838|46.84% | ||||