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SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

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Genes:
A2M, A4GALT, AADAC, AADACL2, AARS2, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA4, ABCA7, ABCB1, ABCB11, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ACACB, ACADL, ACAN, ACAT1, ACSF3, ACSL5, ACSM2B, ACTN3, ADAM12, ADAM19, ADAM33, ADAM7, ADAMTS10, ADAMTS16, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADC, ADCY10, ADCY3, ADCY9, ADH1B, ADH1C, ADH4, ADRA1A, ADRA2A, ADRA2B, ADRB1, ADRB2, ADTRP, AFF3, AGA, AGL, AGRN, AGT, AGXT2, AHR, AHSG, AIP, AKAP13, AKAP9, AKR1C3, AKR1C4, AKR7A3, ALDH16A1, ALDH5A1, ALDH7A1, ALG1, ALG10B, ALG2, ALG6, ALG9, ALK, ALMS1, ALOX12, ALOX15, ALOXE3, ALPL, ALS2, ALS2CL, ALX4, AMACR, AMH, AMPD1, AMT, ANAPC1, ANGPTL5, ANK2, ANKK1, ANKRD11, ANKRD26, ANKS1A, ANO10, ANO7, ANTXR2, ANXA11, AOAH, AOC1, AP3B1, AP4B1, AP4E1, APBA2, APBB3, APC, APOA4, APOB, APOBEC3B, APOBEC3G, APOBEC3H, APOC4, APOE, APOH, APOL1, APOL3, AQP7, AR, ARHGAP31, ARHGAP9, ARHGEF11, ARHGEF12, ARID1A, ARL11, ARL13B, ARMS2, ARSA, ARSB, ARSE, ARVCF, ASAH1, ASCC3, ASCL1, ASNS, ASPM, ASPN, ASPRV1, ASTN2, ASXL1, ATF5, ATF6, ATIC, ATM, ATN1, ATP10A, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATRNL1, ATXN1, ATXN3, ATXN3L, ATXN7, AURKA, AXIN2, AXL, B3GALTL, B3GNT3, B9D2, BAAT, BACE1, BAG3, BAG6, BANK1, BARD1, BBS12, BBS2, BBS4, BCAM, BCL10, BCL2A1, BCL2L2-PABPN1, BCMO1, BCORL1, BCR, BDNF, BICC1, BIRC5, BLVRA, BMP2, BMP4, BMPER, BMPR1A, BPI, BRAF, BRCA1, BRCA2, BRIP1, BRSK2, BRWD3, BTLA, BTN1A1, C10orf11, C12orf10, C1R, C4A, C4BPA, C5, C7, C8B, C9, CA6, CACNA1A, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D4, CACNB2, CALCA, CALCR, CALHM1, CAMKK2, CAPN10, CAPN13, CARD14, CARD8, CASP12, CASP5, CASP8, CASP9, CASR, CATSPER1, CATSPER2, CATSPER4, CBR3, CC2D1A, CCDC14, CCDC170, CCDC8, CCDC88C, CCHCR1, CCL13, CCL22, CCL3L3, CCM2, CCNA2, CCRL2, CD109, CD177, CD19, CD1E, CD207, CD27, CD3EAP, CD3G, CD44, CD5, CD86, CD96, CDAN1, CDC6, CDH13, CDH15, CDH23, CDK11A, CDK5RAP2, CDKN1A, CDKN1B, CDON, CDSN, CDT1, CEL, CELSR1, CENPJ, CEP152, CEP63, CEP68, CER1, CETP, CFB, CFH, CFHR4, CFI, CFTR, CHAT, CHD1L, CHD6, CHD8, CHDH, CHFR, CHGA, CHGB, CHIA, CHL1, CHRNA2, CHRNA3, CHRNA9, CHST3, CHSY1, CHUK, CIDEA, CIDEC, CIITA, CILP, CLCA1, CLCN1, CLCNKA, CLCNKB, CLEC2D, CLEC4M, CLN5, CLOCK, CLSTN2, CLTCL1, CLYBL, CMPK1, CNDP1, CNGA1, CNGB1, CNGB3, CNKSR1, CNR2, CNTNAP4, COCH, COG4, COG5, COG6, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL6A1, COL6A2, COL6A3, COL6A5, COL8A2, COL9A2, COQ2, COQ4, CORIN, CP, CPA4, CPB2, CPOX, CPS1, CPT1B, CPZ, CR1, CR2, CRELD1, CRYBB3, CRYGB, CSAG1, CSF1, CSF2, CSGALNACT1, CSMD1, CSMD3, CSNK1A1L, CSNK2A3, CTC1, CTDP1, CTGF, CTNNA3, CTNS, CTSB, CTSC, CTTNBP2, CUBN, CUL7, CX3CR1, CXCL16, CYBA, CYBRD1, CYP1A2, CYP1B1, CYP21A2, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP2D7P, CYP2F1, CYP3A7, CYP4A22, CYP4B1, CYP4F12, CYP4F2, CYP4V2, D2HGDH, DAG1, DAPK1, DAZL, DBT, DCAF17, DCC, DCDC2, DCLRE1C, DCP1B, DDC, DDOST, DDX11, DDX20, DDX53, DEC1, DFNA5, DFNB31, DGCR14, DGCR2, DGCR8, DGUOK, DHDDS, DHODH, DHX16, DHX36, DHX37, DIAPH3, DIO2, DIS3L2, DKK2, DKK3, DLAT, DLG5, DLGAP2, DMBT1, DMD, DMGDH, DMPK, DMXL1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJC6, DNASE1, DNMT1, DOCK4, DOCK6, DOCK8, DOK7, DPP10, DPY19L2, DPYD, DRD3, DRD4, DROSHA, DSC3, DSG1, DSG4, DSP, DST, DUOX2, DUOXA2, DYM, DYNC2H1, DYX1C1, EARS2, ECM1, ECM2, EDA2R, EDARADD, EDN3, EDRF1, EEF2K, EFCAB5, EFEMP2, EFHC1, EFR3A, EGF, EGFR, EGLN1, EHMT1, EHMT2, EIF2AK3, EIF2B5, EIF4G1, ELK1, ELN, ELOVL4, ELP2, EME1, EMG1, EN2, ENG, ENO3, ENPP1, EP300, EPCAM, EPHA3, EPHX1, ERCC5, ESRRB, ETFB, ETFDH, EVC, EVC2, EVI5, EXO1, EXOC4, EYA4, EYS, F12, F13A1, F13B, F2RL1, F5, FAAH, FABP2, FABP6, FAM20A, FAM20C, FAM83H, FAM8A1, FAM91A1, FANCA, FANCD2, FANCG, FANCI, FARS2, FASN, FBLIM1, FBLN1, FBN1, FBN2, FBN3, FBP1, FBXO7, FCER2, FCGR2A, FCGR3A, FCN3, FCRL3, FFAR1, FGA, FGF23, FGFR1, FGFR4, FGFRL1, FIG4, FIGLA, FLNB, FLT3, FLVCR1, FLVCR2, FMN1, FMN2, FMO2, FMO3, FMO6P, FN1, FOLH1, FOXA1, FOXC1, FOXD3, FOXE1, FOXF2, FOXN1, FPGS, FPR1, FRA10AC1, FRAS1, FREM1, FREM2, FREM3, FRG1, FRK, FRMD7, FRY, FSCB, FSHR, FUT3, FUT6, FYCO1, FZD1, FZD6, G6PC2, GAA, GABRG2, GALC, GALNS, GALNT12, GALNT2, GALNTL5, GARS, GAS2L2, GATA2, GATM, GBE1, GBGT1, GC, GCGR, GCKR, GCNT2, GCSH, GDF15, GDF3, GDF5, GEMIN4, GFAP, GFPT2, GGCX, GGT5, GHR, GHRL, GIP, GJA3, GJB2, GJB4, GJC2, GLB1, GLE1, GLI1, GLI2, GLI3, GLIS3, GLP1R, GLTSCR1, GM2A, GNAI2, GOLGA3, GOLGA5, GON4L, GORAB, GOT1, GP1BA, GP6, GP9, GPC3, GPC6, GPD2, GPIHBP1, GPR1, GPR55, GPR56, GPR98, GPSM2, GPX1, GRIN3A, GRIP1, GRK4, GRM6, GSDMA, GSN, GSPT1, GSTA2, GSTM3, GSTO1, GSTO2, GSTT2, GSTZ1, GTF2E1, GTF2IRD1, GTF2IRD2, GUCY2C, GUCY2D, GUSB, GYPA, GYPB, GYPE, GYS2, GZMB, H6PD, HADH, HADHB, HAL, HAS1, HAVCR1, HCLS1, HCRTR2, HDLBP, HEATR2, HELQ, HEPACAM, HERC2, HEXA, HEXB, HGD, HIBCH, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLX, HMCN1, HMGCR, HMHA1, HNF1A, HNF1B, HNMT, HOXA1, HOXA13, HOXA4, HOXB13, HPD, HPS1, HPS4, HPSE2, HR, HRG, HS1BP3, HSD17B1, HSD17B4, HSD3B1, HSD3B7, HSP90AA1, HSPA1L, HSPG2, HTR3B, HTR3C, HTR3E, HTT, HUS1B, HYDIN, HYLS1, ICAM5, ID3, IDUA, IFI44L, IFIH1, IFITM3, IFITM5, IFNAR2, IFT80, IGF2R, IGFALS, IGFBP1, IGFBP3, IGHA1, IGHM, IGHMBP2, IKBKAP, IL10RA, IL10RB, IL17REL, IL19, IL1A, IL20RA, IL23R, IL3, IL31RA, IL4R, IL7R, ILDR1, IMMT, IMPG2, INMT, INSL3, INSR, IQCB1, IQGAP1, IQGAP2, IQGAP3, IRAK3, IRF5, IRF6, IRS2, IRS4, ISCU, ISPD, ITGA11, ITGA2B, ITGA3, ITGA4, ITGA7, ITGA9, ITGAE, ITGB2, ITGB4, ITIH1, ITIH3, ITPR3, IYD, JMJD1C, JPH2, JPH3, JUP, KALRN, KANK1, KANSL1, KARS, KAT6B, KATNAL2, KBTBD13, KCNC3, KCNE1, KCNE4, KCNJ11, KCNJ13, KCNJ15, KCNJ5, KCNJ9, KCNK18, KCNK6, KCNMB1, KCNMB3, KCNN3, KCNQ1, KCNQ2, KCNQ4, KCNS3, KDM4C, KDM5A, KDM6B, KDR, KEL, KIAA0319, KIAA1033, KIAA1377, KIAA1462, KIF17, KIF18A, KIF1A, KIF6, KIF7, KIR2DL1, KIR2DL4, KIR3DL1, KIR3DL2, KISS1, KISS1R, KIT, KL, KLB, KLF1, KLK1, KLK4, KLK7, KLKB1, KLRK1, KMT2C, KNG1, KPNA1, KRT1, KRT10, KRT13, KRT14, KRT2, KRT3, KRT37, KRT38, KRT5, KRT6A, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, KRTAP1-1, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB3, LAMC1, LAMC3, LBR, LCA5, LCT, LDLRAP1, LEPR, LGALS3, LHCGR, LHX4, LIFR, LINS, LIPC, LIPE, LIPI, LLGL1, LMAN1, LMBRD1, LMF1, LMTK3, LNX2, LOR, LOXHD1, LOXL1, LPA, LPIN1, LRCH1, LRP1, LRP2, LRP4, LRP5, LRRC6, LRRK2, LRSAM1, LTA, LTBP1, LTF, LTK, LTN1, LY96, MAD1L1, MAN1B1, MAN2B1, MANBA, MAP2K3, MAP3K1, MAP3K15, MAP6, MAP7D3, MASP2, MAST4, MASTL, MBD1, MC1R, MC4R, MCEE, MCF2L2, MCHR1, MCM4, MCPH1, MDN1, MED17, MEF2A, MEFV, MEGF11, MEN1, MEP1B, MERTK, MESP2, MFF, MFGE8, MGAT1, MIA3, MICA, MICB, MIIP, MKKS, MKL1, MLH3, MMAB, MME, MMEL1, MMP14, MMP20, MMP7, MMP8, MMP9, MNX1, MOCOS, MOG, MOGS, MOK, MPDZ, MPHOSPH8, MPP4, MPP7, MRC1, MRC1L1, MRPL3, MS4A6E, MSH3, MSH5, MSR1, MST1, MST1R, MSX2, MT1A, MTCH2, MTHFD1, MTHFR, MTR, MTRR, MTTP, MTUS1, MUC13, MUC3A, MUC4, MUC5B, MUC7, MUT, MX1, MYBPC1, MYCL, MYH11, MYH13, MYH14, MYH15, MYH6, MYH8, MYH9, MYLIP, MYLK, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYO7B, MYO9B, MYOC, MYOM1, MYOT, MYPN, NAGLU, NAGS, NARS2, NAT2, NAV2, NBEA, NBEAL2, NBN, NBPF1, NCAM1, NCAPD2, NCF1, NCF4, NCOA3, NDN, NDUFS3, NDUFS7, NDUFV2, NDUFV3, NEB, NEFH, NEFM, NELL1, NEUROD1, NEUROG3, NFATC4, NFKB1, NFKBIL1, NFU1, NGF, NID1, NINJ1, NIPSNAP3A, NLRP1, NLRP14, NLRP2, NLRX1, NMB, NME8, NOBOX, NODAL, NOS1, NOS3, NOTCH2, NOTCH3, NOTCH4, NPAP1, NPAS2, NPAT, NPC1, NPHP4, NPPA, NPSR1, NQO1, NQO2, NR1H2, NR3C2, NRG1, NRIP1, NRP2, NRXN2, NSD1, NSUN7, NT5C1B, NT5E, NTNG1, NTRK1, NUAK1, NUDT1, NUDT6, NUMBL, NUP62, NXNL1, OAS1, OBSCN, OBSL1, OCA2, OLFM2, OPA1, OPN1MW2, OPN4, OPRD1, OPRM1, OPTN, OR13G1, OR7D4, ORAI1, OSMR, OTOA, OTOF, OVGP1, OXTR, P2RX7, PABPC4L, PAK7, PALM2-AKAP2, PANK2, PARD3B, PARK2, PARP1, PASK, PAX4, PCCA, PCDH15, PCDHA10, PCK1, PCK2, PCMT1, PCNT, PCSK9, PDE11A, PDE6B, PDE6C, PDHB, PDLIM5, PEAR1, PENK, PER1, PER2, PER3, PEX14, PEX16, PEX2, PFAS, PFKM, PGM1, PHIP, PHOX2B, PIEZO2, PIGN, PIGR, PIK3C2G, PIK3CA, PIK3R1, PIK3R2, PIKFYVE, PIP4K2A, PITX1, PIWIL3, PKD1, PKD1L1, PKHD1, PKP1, PLA2G2D, PLA2G4A, PLA2G4C, PLA2G7, PLAU, PLCE1, PLD2, PLEC, PLEKHG4, PLIN1, PLOD1, PLXND1, PMS2, PNP, PNPLA1, PNPLA2, PNPLA3, POF1B, POLG, POLR2E, POLRMT, POMGNT1, POMT1, POMT2, PON1, PON2, POR, POU3F4, POU5F1B, PPAN-P2RY11, PPARG, PPIG, PPP1R1A, PPP1R3A, PRDM9, PRKAG3, PRKDC, PRKRA, PRLHR, PRMT3, PROCR, PRODH, PROK1, PROKR1, PROP1, PRPH2, PRRC2A, PRRT2, PRSS1, PRSS12, PRSS56, PRX, PSMB8, PSMC3IP, PSPH, PTCH1, PTCHD3, PTF1A, PTGDR2, PTGS1, PTPN21, PTPN22, PTPRB, PTPRJ, PTPRQ, PTPRT, PVR, PVRL1, PYCRL, PYY, PZP, RAB23, RAB3GAP1, RABGGTA, RABL6, RAD21L1, RAET1L, RAG1, RAI1, RALGAPA1, RASSF1, RAX, RB1CC1, RBM20, RBMXL2, RBP3, RECQL4, RELN, REV3L, RFX2, RFX8, RFXANK, RGMA, RHBDF2, RHCE, RHPN2, RIN2, RIPK4, RMI1, RNASE3, RNASEL, RNF168, RNF213, RNLS, ROBO3, ROM1, ROR2, ROS1, RP1, RP11-145E5.5, RP1L1, RPA4, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS17, RPS6KL1, RRP1B, RSPH4A, RUNX3, RXFP2, RYK, RYR1, RYR3, SAA1, SAA2, SAG, SAGE1, SALL1, SALL4, SARDH, SART1, SART3, SATL1, SCAP, SCARF2, SCGB1D2, SCN10A, SCN1A, SCN1B, SCN4A, SCN9A, SCNN1A, SCO1, SCRIB, SCUBE2, SDC3, SDCCAG8, SDHAF1, SEC23A, SEC23B, SEL1L, SELE, SELL, SELP, SELPLG, SEMA3E, SEMA4C, SEMA4G, SEMA6D, SEPN1, SEPT9, SERPINA1, SERPINA10, SERPINA3, SERPINA6, SERPINB11, SERPINB5, SERPINF1, SERPINF2, SERPINI2, SERTAD1, SETBP1, SETD2, SETD8, SETDB2, SETX, SEZ6, SEZ6L2, SFTPA2, SFTPB, SFTPD, SGCG, SGK223, SGSH, SH2B1, SH2B3, SHANK3, SHMT1, SHROOM3, SHROOM4, SI, SIAE, SIGLEC12, SIGLEC14, SIGMAR1, SIM1, SIRT1, SIX5, SIX6, SKIV2L, SLC10A2, SLC11A2, SLC12A1, SLC12A3, SLC13A2, SLC14A1, SLC14A2, SLC16A1, SLC16A12, SLC16A2, SLC17A1, SLC18A1, SLC19A1, SLC22A1, SLC22A14, SLC22A2, SLC22A4, SLC23A1, SLC24A1, SLC24A5, SLC25A15, SLC25A19, SLC25A39, SLC26A1, SLC26A10, SLC26A2, SLC26A6, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A3, SLC2A9, SLC30A8, SLC34A2, SLC34A3, SLC35C1, SLC35G2, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC44A2, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC52A1, SLC5A7, SLC6A12, SLC6A18, SLC6A5, SLC7A9, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLIT3, SMARCA2, SMARCAD1, SMC1B, SMG6, SMPD1, SMYD3, SNTG2, SNX19, SOBP, SOD3, SOHLH1, SORBS1, SORL1, SP100, SP110, SPAG16, SPAG17, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPRN, SPRR3, SPTA1, SPTB, SPTBN2, SPTBN5, SRD5A3, SREBF2, SRGAP2, SSTR5, ST5, STEAP3, STEAP4, STIL, STK39, STOX1, STRA6, STRC, STXBP2, STXBP5, SUCLA2, SULT1A1, SUMO4, SUV420H1, SYNE1, SYNE2, SYNGR1, SYNM, SYNPO, SYT11, SYTL3, T, TAC3, TAF1C, TAF2, TAF7L, TAP2, TAPBP, TAS1R1, TAS1R2, TAS1R3, TAS2R16, TAS2R19, TAS2R38, TAS2R43, TAS2R46, TAS2R50, TAS2R9, TBC1D1, TBC1D4, TBX1, TBX15, TBX4, TBXAS1, TCF4, TCN2, TCTE1, TCTE3, TDGF1, TDRD7, TECTA, TEK, TEP1, TET1, TEX14, TF, TFRC, TG, TGFB1, TGFBRAP1, TGM1, TGM6, TH, THADA, THBD, THBS1, THSD7A, TINAG, TJP2, TLL1, TLR1, TLR10, TLR5, TLR6, TM4SF19, TMC6, TMC8, TMEM135, TMEM173, TMEM2, TMEM216, TMEM43, TMEM67, TMPRSS11A, TMPRSS15, TMPRSS3, TMPRSS4, TMPRSS5, TMPRSS6, TNC, TNFAIP2, TNFRSF10A, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFSF14, TNR, TNXB, TOP1MT, TOPBP1, TP53, TP53BP1, TPCN2, TPO, TPSB2, TPTE, TRAF3IP2, TRAK2, TRDN, TRIB3, TRIM22, TRIOBP, TRIP11, TRPA1, TRPM1, TRPM2, TRPM3, TRPM6, TRPM7, TRPV1, TRPV3, TRPV4, TSEN54, TSHB, TSHR, TSHZ1, TSPO, TSPYL1, TSSC4, TTBK2, TTC21B, TTC37, TTI2, TTN, TUBB1, TUBGCP6, TULP1, TXNRD2, TYK2, TYMP, UBA1, UBD, UCP2, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT2A1, UGT2A3, UGT2B15, UGT2B7, UNC13D, UNC5C, UPB1, UPK3A, USH2A, USP24, UTP14C, UTS2, UVSSA, VANGL1, VCAN, VCX3A, VDR, VIMP, VNN1, VPS13B, VPS33B, VTN, VWF, WASF3, WDFY4, WDR13, WDR4, WDR62, WDR65, WDR72, WDR81, WFS1, WIPF1, WISP3, WNK1, WRAP53, WRN, WWC1, WWOX, XPC, XRCC1, XYLT2, YBX2, ZAN, ZBTB18, ZBTB40, ZC3H3, ZC3HAV1, ZDHHC8, ZFHX3, ZFP57, ZFP90, ZFPM2, ZFYVE26, ZFYVE27, ZNF202, ZNF224, ZNF24, ZNF335, ZNF385B, ZNF469, ZNF526, ZNF674, ZNF804A,

+ Genes associated with diseases 993

Genes at Omim

A2M, A4GALT, AARS2, ABAT, ABCA1, ABCA12, ABCA4, ABCA7, ABCB1, ABCB11, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ACAN, ACAT1, ACSF3, ACTN3, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADCY10, ADCY3, ADH1B, ADH1C, ADRA2B, ADRB1, ADRB2, AGA, AGL, AGRN, AGT, AGXT2, AHR, AHSG, AIP, AKAP9, AKR1C4, ALDH5A1, ALDH7A1, ALG1, ALG10B, ALG2, ALG6, ALG9, ALK, ALMS1, ALOXE3, ALPL, ALS2, ALX4, AMACR, AMH, AMPD1, AMT, ANK2, ANKRD11, ANKRD26, ANO10, ANTXR2, ANXA11, AP3B1, AP4B1, AP4E1, APC, APOB, APOE, APOL1, AQP7, AR, ARHGAP31, ARID1A, ARL13B, ARSA, ARSB, ARSE, ASAH1, ASCL1, ASNS, ASPM, ASPN, ASXL1, ATF6, ATIC, ATM, ATN1, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATXN1, ATXN3, ATXN7, AURKA, AXIN2, B9D2, BAAT, BAG3, BARD1, BBS12, BBS2, BBS4, BCL10, BCR, BICC1, BLVRA, BMP2, BMP4, BMPER, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BRWD3, C1R, C4A, C5, C7, C8B, C9, CACNA1A, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D4, CACNB2, CALCR, CAPN10, CARD14, CASP12, CASP8, CASR, CATSPER1, CC2D1A, CCDC8, CCDC88C, CD19, CD207, CD27, CD3G, CD44, CD96, CDAN1, CDC6, CDH15, CDH23, CDK5RAP2, CDKN1B, CDON, CDSN, CDT1, CEL, CENPJ, CEP152, CEP63, CETP, CFB, CFH, CFI, CFTR, CHAT, CHD8, CHRNA2, CHRNA3, CHST3, CHSY1, CHUK, CIDEC, CIITA, CILP, CLCN1, CLCNKA, CLCNKB, CLEC4M, CLN5, CNGA1, CNGB1, CNGB3, COCH, COG4, COG5, COG6, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL6A1, COL6A2, COL6A3, COL8A2, COL9A2, COQ2, COQ4, CORIN, CP, CPOX, CPS1, CR1, CR2, CRELD1, CRYBB3, CRYGB, CTC1, CTDP1, CTNNA3, CTNS, CTSB, CTSC, CUBN, CUL7, CX3CR1, CYBA, CYP1B1, CYP21A2, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP4V2, D2HGDH, DAG1, DAZL, DBT, DCAF17, DCC, DCDC2, DCLRE1C, DDC, DDOST, DDX11, DGCR2, DGUOK, DHDDS, DHODH, DIAPH3, DIS3L2, DLAT, DMD, DMGDH, DMPK, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJC6, DNASE1, DNMT1, DOCK6, DOCK8, DOK7, DPY19L2, DPYD, DRD3, DRD4, DSC3, DSG1, DSG4, DSP, DST, DUOX2, DUOXA2, DYM, DYNC2H1, EARS2, ECM1, EDARADD, EDN3, EFEMP2, EFHC1, EGF, EGFR, EGLN1, EHMT1, EIF2AK3, EIF2B5, EIF4G1, ELN, ELOVL4, ELP2, EMG1, ENG, ENO3, ENPP1, EP300, EPCAM, EPHX1, ERCC5, ESRRB, ETFB, ETFDH, EVC, EVC2, EYA4, EYS, F12, F13A1, F13B, F5, FAAH, FAM20A, FAM20C, FAM83H, FANCA, FANCD2, FANCI, FARS2, FBLN1, FBN1, FBN2, FBP1, FBXO7, FCGR2A, FCGR3A, FCN3, FGA, FGF23, FGFR1, FGFR4, FIG4, FIGLA, FLNB, FLT3, FLVCR1, FLVCR2, FMN2, FMO3, FN1, FOXC1, FOXD3, FOXE1, FOXN1, FRAS1, FREM1, FREM2, FRMD7, FSHR, FUT3, FUT6, FYCO1, FZD6, GAA, GABRG2, GALC, GALNS, GALNT12, GARS, GATA2, GATM, GBE1, GCGR, GCKR, GCNT2, GCSH, GDF3, GDF5, GEMIN4, GFAP, GGCX, GHR, GHRL, GJA3, GJB2, GJB4, GJC2, GLB1, GLE1, GLI1, GLI2, GLI3, GLIS3, GM2A, GNAI2, GORAB, GOT1, GP1BA, GP6, GP9, GPC3, GPC6, GPD2, GPIHBP1, GPSM2, GPX1, GRIP1, GRM6, GSN, GSTZ1, GUCY2C, GUCY2D, GUSB, GYPA, GYPB, GYS2, H6PD, HADHB, HAL, HEPACAM, HERC2, HEXA, HEXB, HGD, HIBCH, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HMCN1, HMGCR, HNF1A, HNF1B, HNMT, HOXA1, HOXA13, HOXB13, HPD, HPS1, HPS4, HPSE2, HR, HRG, HSD17B4, HSD3B7, HSPG2, HTT, HYDIN, HYLS1, IDUA, IFIH1, IFITM3, IFITM5, IFNAR2, IFT80, IGF2R, IGFALS, IGHM, IGHMBP2, IKBKAP, IL10RA, IL23R, IL31RA, IL4R, IL7R, ILDR1, IMPG2, INSL3, INSR, IQCB1, IRAK3, IRF5, IRF6, IRS2, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGB2, ITGB4, ITPR3, IYD, JPH2, JPH3, JUP, KALRN, KANK1, KANSL1, KARS, KAT6B, KBTBD13, KCNC3, KCNE1, KCNJ11, KCNJ13, KCNJ5, KCNK18, KCNMB1, KCNQ1, KCNQ2, KCNQ4, KDR, KEL, KIF1A, KIF7, KIR3DL1, KISS1, KISS1R, KIT, KL, KLF1, KLK1, KLK4, KLKB1, KMT2C, KNG1, KRT1, KRT10, KRT13, KRT14, KRT2, KRT3, KRT5, KRT6A, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB3, LAMC3, LBR, LCA5, LCT, LDLRAP1, LEPR, LHCGR, LHX4, LIFR, LIPC, LIPE, LIPI, LMAN1, LMBRD1, LMF1, LOR, LOXHD1, LOXL1, LPA, LPIN1, LRP1, LRP2, LRP4, LRP5, LRRC6, LRRK2, LRSAM1, LTA, MAD1L1, MAN1B1, MAN2B1, MANBA, MAP3K1, MASP2, MC1R, MC4R, MCEE, MCM4, MCPH1, MED17, MEF2A, MEFV, MEN1, MERTK, MESP2, MFF, MKKS, MKL1, MLH3, MMAB, MME, MMP14, MMP20, MMP9, MNX1, MOCOS, MOG, MOGS, MPDZ, MRPL3, MSH3, MSH5, MSR1, MST1R, MSX2, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUC5B, MUC7, MUT, MYBPC1, MYH11, MYH14, MYH6, MYH8, MYH9, MYLK, MYO15A, MYO18B, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYO9B, MYOC, MYOT, MYPN, NAGLU, NAGS, NARS2, NAT2, NBEAL2, NBN, NCAPD2, NCF1, NCF4, NDN, NDUFS3, NDUFS7, NDUFV2, NEB, NEFH, NEUROD1, NEUROG3, NFKB1, NFKBIL1, NFU1, NGF, NLRP1, NME8, NOBOX, NODAL, NOS3, NOTCH2, NOTCH3, NPC1, NPC1, NPHP4, NPPA, NPSR1, NQO1, NQO2, NR3C2, NRG1, NRIP1, NSD1, NT5E, NTRK1, NUP62, OBSL1, OCA2, OPA1, OPTN, ORAI1, OSMR, OTOA, OTOF, PANK2, PAX4, PCCA, PCDH15, PCK1, PCK2, PCNT, PCSK9, PDE11A, PDE6B, PDE6C, PDHB, PER2, PER3, PEX14, PEX16, PEX2, PFKM, PGM1, PHIP, PHOX2B, PIEZO2, PIGN, PIK3CA, PIK3R1, PIK3R2, PIKFYVE, PITX1, PKD1, PKD1L1, PKP1, PLA2G4A, PLA2G7, PLAU, PLCE1, PLIN1, PLOD1, PMS2, PNP, PNPLA1, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PON1, PON2, POR, POU3F4, PPARG, PPP1R3A, PRKDC, PRKRA, PRODH, PROP1, PRPH2, PRRT2, PRSS1, PRSS12, PRSS56, PRX, PSMB8, PSMC3IP, PSPH, PTCH1, PTF1A, PTPN22, PTPRJ, PTPRQ, RAB23, RAB3GAP1, RAG1, RAI1, RAX, RB1CC1, RBM20, RBP3, RECQL4, RELN, RFXANK, RHBDF2, RHCE, RIN2, RIPK4, RNASEL, RNF168, RNF213, ROBO3, ROM1, ROR2, RP1, RP1L1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS17, RSPH4A, RYR1, SAG, SALL1, SALL4, SARDH, SCARF2, SCN10A, SCN1A, SCN1B, SCN4A, SCN9A, SCNN1A, SCO1, SDC3, SDCCAG8, SDHAF1, SEC23A, SEC23B, SEMA3E, SEPT9, SERPINA1, SERPINA3, SERPINF1, SETBP1, SETD2, SETX, SFTPA2, SFTPB, SGCG, SGSH, SH2B3, SHANK3, SHROOM4, SI, SIAE, SIGMAR1, SIM1, SIX5, SIX6, SKIV2L, SLC10A2, SLC11A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC16A12, SLC16A2, SLC22A4, SLC24A1, SLC24A5, SLC25A15, SLC25A19, SLC26A1, SLC26A2, SLC29A3, SLC2A9, SLC30A8, SLC34A2, SLC34A3, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC5A7, SLC6A5, SLC7A9, SLCO1B1, SLCO1B3, SLCO2A1, SMARCA2, SMARCAD1, SMPD1, SOBP, SOD3, SOHLH1, SP110, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPTA1, SPTB, SPTBN2, SRD5A3, SSTR5, STEAP3, STIL, STOX1, STRA6, STRC, STXBP2, SUCLA2, SUMO4, SYNE1, SYNE2, T, TAC3, TAF2, TAP2, TAPBP, TAS2R16, TAS2R38, TBC1D4, TBX1, TBX15, TBX4, TBXAS1, TCF4, TCN2, TDGF1, TDRD7, TECTA, TEK, TEX14, TF, TFRC, TG, TGFB1, TGM1, TGM6, TH, THBD, TJP2, TLL1, TLR1, TLR5, TMC6, TMC8, TMEM173, TMEM216, TMEM43, TMEM67, TMPRSS15, TMPRSS3, TMPRSS6, TNC, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNXB, TP53, TPCN2, TPO, TRAF3IP2, TRDN, TRIOBP, TRIP11, TRPA1, TRPM1, TRPM6, TRPM7, TRPV3, TRPV4, TSEN54, TSHB, TSHR, TSHZ1, TSPYL1, TTBK2, TTC21B, TTC37, TTI2, TTN, TUBB1, TUBGCP6, TULP1, TXNRD2, TYK2, TYMP, UBA1, UCP2, UNC13D, UPB1, USH2A, UVSSA, VANGL1, VCAN, VDR, VNN1, VPS13B, VPS33B, VWF, WDR4, WDR62, WDR72, WDR81, WFS1, WIPF1, WISP3, WNK1, WRAP53, WWC1, WWOX, XPC, XRCC1, XYLT2, ZBTB18, ZFHX3, ZFP57, ZFPM2, ZFYVE26, ZFYVE27, ZNF335, ZNF469,

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)
ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCB1	{Inflammatory bowel disease 13}, 612244 (3) {Colchicine resistance}, 120080 (3)
ABCB11	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ABCC11	[Axillary odor, variation in], 117800 (3) [Colostrum secretion, variation in], 117800 (3) [Earwax, wet/dry], 117800 (3)
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)
ABCG2	[Junior blood group system], 614490 (3) [Uric acid concentration, serum, QTL1], 138900 (3)
ABCG5	Sitosterolemia, 210250 (3)
ABCG8	{Gallbladder disease 4}, 611465 (3) Sitosterolemia, 210250 (3)
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)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
ACTN3	[Alpha-actinin-3 deficiency], 617749 (3) [Sprinting performance], 617749 (3)
ADAMTS10	Weill-Marchesani syndrome 1, recessive, 277600 (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)
ADAMTSL2	Geleophysic dysplasia 1, 231050 (3)
ADAMTSL4	Ectopia lentis et pupillae, 225200 (3) Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR	Aicardi-Goutieres syndrome 6, 615010 (3) Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCY10	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADCY3	{Obesity, susceptibility to, BMIQ19}, 617885 (3)
ADH1B	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3) {Alcohol dependence, protection against}, 103780 (3)
ADH1C	{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3)
ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
ADRB1	[Resting heart rate], 607276 (3) {Congestive heart failure and beta-blocker response, modifier of} (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)
AGRN	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (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)
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)
AKAP9	?Long QT syndrome-11, 611820 (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ALDH7A1	Epilepsy, pyridoxine-dependent, 266100 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ALG10B	{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ALG2	Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) ?Congenital disorder of glycosylation, type Ii, 607906 (3)
ALG6	Congenital disorder of glycosylation, type Ic, 603147 (3)
ALG9	Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) Congenital disorder of glycosylation, type Il, 608776 (3)
ALK	{Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1	Alstrom syndrome, 203800 (3)
ALOXE3	Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ALPL	Hypophosphatasia, adult, 146300 (3) Hypophosphatasia, childhood, 241510 (3) Hypophosphatasia, infantile, 241500 (3) Odontohypophosphatasia, 146300 (3)
ALS2	Amyotrophic lateral sclerosis 2, juvenile, 205100 (3) Primary lateral sclerosis, juvenile, 606353 (3) Spastic paralysis, infantile onset ascending, 607225 (3)
ALX4	Frontonasal dysplasia 2, 613451 (3) Parietal foramina 2, 609597 (3) {Craniosynostosis 5, susceptibility to}, 615529 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH	Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD1	Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
AMT	Glycine encephalopathy, 605899 (3)
ANK2	Cardiac arrhythmia, ankyrin-B-related, 600919 (3) Long QT syndrome 4, 600919 (3)
ANKRD11	KBG syndrome, 148050 (3)
ANKRD26	Thrombocytopenia 2, 188000 (3)
ANO10	Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ANTXR2	Hyaline fibromatosis syndrome, 228600 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
AP3B1	Hermansky-Pudlak syndrome 2, 608233 (3)
AP4B1	Spastic paraplegia 47, autosomal recessive, 614066 (3)
AP4E1	Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3)
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)
APOB	Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) Hypobetalipoproteinemia, 615558 (3)
APOE	Alzheimer disease-2, 104310 (3) Hyperlipoproteinemia, type III, 617347 (3) Lipoprotein glomerulopathy, 611771 (3) Sea-blue histiocyte disease, 269600 (3) {?Macular degeneration, age-related}, 603075 (3) {Coronary artery disease, severe, susceptibility to}, 617347 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (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)
ARSA	Metachromatic leukodystrophy, 250100 (3)
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ARSE	Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ASAH1	Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
ASCL1	Haddad syndrome, 209880 (3) Central hypoventilation syndrome, congenital, 209880 (3)
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)
ATF6	Achromatopsia 7, 616517 (3)
ATIC	AICA-ribosiduria due to ATIC deficiency, 608688 (3)
ATM	Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3) {Breast cancer, susceptibility to}, 114480 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
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)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
ATXN7	Spinocerebellar ataxia 7, 164500 (3)
AURKA	{Colon cancer, susceptibility to}, 114500 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D2	Joubert syndrome 34, 614175 (3) ?Meckel syndrome 10, 614175 (3)
BAAT	Hypercholanemia, familial, 607748 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (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)
BCL10	{Lymphoma, follicular, somatic}, 605027 (3) {Male germ cell tumor, somatic}, 273300 (3) {Mesothelioma, somatic}, 156240 (3) Lymphoma, MALT, somatic, 137245 (3) {Sezary syndrome, somatic} (3) ?Immunodeficiency 37, 616098 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLVRA	Hyperbiliverdinemia, 614156 (3)
BMP2	{HFE hemochromatosis, modifier of}, 235200 (3) Brachydactyly, type A2, 112600 (3) Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
BMP4	Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3)
BMPER	Diaphanospondylodysostosis, 608022 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BRAF	Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3)
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)
C1R	Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
C5	C5 deficiency, 609536 (3) [Eculizumab, poor response to], 615749 (3)
C7	C7 deficiency, 610102 (3)
C8B	C8 deficiency, type II, 613789 (3)
C9	C9 deficiency, 613825 (3) {Macular degeneration, age-related, 15, susceptibility to}, 615591 (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)
CACNA1F	Aland Island eye disease, 300600 (3) Cone-rod dystrophy, X-linked, 3, 300476 (3) Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CACNA1G	Spinocerebellar ataxia 42, 616795 (3) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CACNA2D4	Retinal cone dystrophy 4, 610478 (3)
CACNB2	Brugada syndrome 4, 611876 (3)
CALCR	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAPN10	{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
CARD14	Pityriasis rubra pilaris, 173200 (3) Psoriasis 2, 602723 (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)
CCDC8	3-M syndrome 3, 614205 (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)
CD27	Lymphoproliferative syndrome 2, 615122 (3)
CD3G	Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44	[Blood group, Indian system], 609027 (3)
CD96	C syndrome, 211750 (3)
CDAN1	Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CDC6	?Meier-Gorlin syndrome 5, 613805 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CDK5RAP2	Microcephaly 3, primary, autosomal recessive, 604804 (3)
CDKN1B	Multiple endocrine neoplasia, type IV, 610755 (3)
CDON	Holoprosencephaly 11, 614226 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
CDT1	Meier-Gorlin syndrome 4, 613804 (3)
CEL	Maturity-onset diabetes of the young, type VIII, 609812 (3)
CENPJ	Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3)
CEP152	Microcephaly 9, primary, autosomal recessive, 614852 (3) Seckel syndrome 5, 613823 (3)
CEP63	?Seckel syndrome 6, 614728 (3)
CETP	Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (3)
CFB	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) ?Complement factor B deficiency, 615561 (3)
CFH	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) Basal laminar drusen, 126700 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3)
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)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
CHRNA2	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHSY1	Temtamy preaxial brachydactyly syndrome, 605282 (3)
CHUK	Cocoon syndrome, 613630 (3)
CIDEC	?Lipodystrophy, familial partial, type 5, 615238 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
CLCN1	Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3)
CLCNKA	Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB	Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3)
CLEC4M	SARS infection, protection against (2)
CLN5	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
CNGA1	Retinitis pigmentosa 49, 613756 (3)
CNGB1	Retinitis pigmentosa 45, 613767 (3)
CNGB3	Achromatopsia 3, 262300 (3) Macular degeneration, juvenile, 248200 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3)
COG4	Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3)
COG5	Congenital disorder of glycosylation, type IIi, 613612 (3)
COG6	Congenital disorder of glycosylation, type IIl, 614576 (3) Shaheen syndrome, 615328 (3)
COL10A1	Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A1	Fibrochondrogenesis 1, 228520 (3) {Lumbar disc herniation, susceptibility to}, 603932 (3) Marshall syndrome, 154780 (3) Stickler syndrome, type II, 604841 (3)
COL11A2	Fibrochondrogenesis 2, 614524 (3) Deafness, autosomal dominant 13, 601868 (3) Deafness, autosomal recessive 53, 609706 (3) Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
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)
COL4A5	Alport syndrome 1, X-linked, 301050 (3)
COL4A6	?Deafness, X-linked 6, 300914 (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)
COL8A2	Corneal dystrophy, Fuchs endothelial, 1, 136800 (3) Corneal dystrophy, posterior polymorphous 2, 609140 (3)
COL9A2	Epiphyseal dysplasia, multiple, 2, 600204 (3) ?Stickler syndrome, type V, 614284 (3)
COQ2	Coenzyme Q10 deficiency, primary, 1, 607426 (3) {Multiple system atrophy, susceptibility to}, 146500 (3)
COQ4	Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CORIN	Preeclampsia/eclampsia 5, 614595 (3)
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)
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)
CTC1	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CTNS	Cystinosis, atypical nephropathic, 219800 (3) Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) Cystinosis, nephropathic, 219800 (3) Cystinosis, ocular nonnephropathic, 219750 (3)
CTSB	Keratolytic winter erythema, 148370 (4)
CTSC	Haim-Munk syndrome, 245010 (3) Papillon-Lefevre syndrome, 245000 (3) Periodontitis 1, juvenile, 170650 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
CUL7	3-M syndrome 1, 273750 (3)
CX3CR1	{Macular degeneration, age-related, 12}, 613784 (3) {Rapid progression to AIDS from HIV1 infection}, 609423 (3) {Coronary artery disease, resistance to}, 607339 (3)
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)
CYP27A1	Cerebrotendinous xanthomatosis, 213700 (3)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
CYP4V2	Bietti crystalline corneoretinal dystrophy, 210370 (3)
D2HGDH	D-2-hydroxyglutaric aciduria, 600721 (3)
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DAZL	{Spermatogenic failure, susceptibility to} (3)
DBT	Maple syrup urine disease, type II, 248600 (3)
DCAF17	Woodhouse-Sakati syndrome, 241080 (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)
DCDC2	?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3)
DCLRE1C	Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (3)
DDC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DDOST	?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDX11	Warsaw breakage syndrome, 613398 (3)
DGCR2	DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) Portal hypertension, noncirrhotic, 617068 (3) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)
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)
DIAPH3	Auditory neuropathy, autosomal dominant, 1, 609129 (3)
DIS3L2	Perlman syndrome, 267000 (3)
DLAT	Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DMD	Becker muscular dystrophy, 300376 (3) Cardiomyopathy, dilated, 3B, 302045 (3) Duchenne muscular dystrophy, 310200 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DMPK	Myotonic dystrophy 1, 160900 (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)
DNAJC6	Parkinson disease 19a, juvenile-onset, 615528 (3) Parkinson disease 19b, early-onset, 615528 (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)
DPY19L2	Spermatogenic failure 9, 613958 (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)
DSC3	?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG4	Hypotrichosis 6, 607903 (3)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DUOX2	Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2	Thyroid dyshormonogenesis 5, 274900 (3)
DYM	Dyggve-Melchior-Clausen disease, 223800 (3) Smith-McCort dysplasia, 607326 (3)
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EARS2	Combined oxidative phosphorylation deficiency 12, 614924 (3)
ECM1	Urbach-Wiethe disease, 247100 (3)
EDARADD	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3) Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EDN3	{Hirschsprung disease, susceptibility to, 4}, 613712 (3) Central hypoventilation syndrome, congenital, 209880 (3) Waardenburg syndrome, type 4B, 613265 (3)
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)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EGLN1	Erythrocytosis, familial, 3, 609820 (3) [Hemoglobin, high altitude adaptation], 609070 (3)
EHMT1	Kleefstra syndrome 1, 610253 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
EIF2B5	Leukoencephalopathy with vanishing white matter, 603896 (3) Ovarioleukodystrophy, 603896 (3)
EIF4G1	{Parkinson disease 18}, 614251 (3)
ELN	Cutis laxa, autosomal dominant, 123700 (3) Supravalvar aortic stenosis, 185500 (3)
ELOVL4	Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3) Spinocerebellar ataxia 34, 133190 (3) Stargardt disease 3, 600110 (3)
ELP2	Mental retardation, autosomal recessive 58, 617270 (3)
EMG1	Bowen-Conradi syndrome, 211180 (3)
ENG	Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ENO3	?Glycogen storage disease XIII, 612932 (3)
ENPP1	Arterial calcification, generalized, of infancy, 1, 208000 (3) Cole disease, 615522 (3) Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) {Obesity, susceptibility to}, 601665 (3) {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
EPHX1	?Hypercholanemia, familial, 607748 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
ESRRB	Deafness, autosomal recessive 35, 608565 (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)
EVC2	Ellis-van Creveld syndrome, 225500 (3) Weyers acrofacial dysostosis, 193530 (3)
EYA4	Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3)
EYS	Retinitis pigmentosa 25, 602772 (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)
FAAH	{Drug addiction, susceptibility to}, 606581 (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)
FANCD2	Fanconi anemia, complementation group D2, 227646 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FARS2	Combined oxidative phosphorylation deficiency 14, 614946 (3) Spastic paraplegia 77, autosomal recessive, 617046 (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)
FBXO7	Parkinson disease 15, autosomal recessive, 260300 (3)
FCGR2A	{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR3A	Immunodeficiency 20, 615707 (3)
FCN3	Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
FGA	Afibrinogenemia, congenital, 202400 (3) Amyloidosis, familial visceral, 105200 (3) Hypodysfibrinogenemia, congenital, 616004 (3) Dysfibrinogenemia, congenital, 616004 (3)
FGF23	Hypophosphatemic rickets, autosomal dominant, 193100 (3) Osteomalacia, tumor-induced (1) Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
FGFR1	Hartsfield syndrome, 615465 (3) Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3) Encephalocraniocutaneous lipomatosis, 613001 (3) Jackson-Weiss syndrome, 123150 (3) Osteoglophonic dysplasia, 166250 (3) Pfeiffer syndrome, 101600 (3) Trigonocephaly 1, 190440 (3)
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)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
FLT3	Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3)
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FMO3	Trimethylaminuria, 602079 (3)
FN1	Glomerulopathy with fibronectin deposits 2, 601894 (3) Plasma fibronectin deficiency, 614101 (1) Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
FOXD3	{Autoimmune disease, susceptibility to, 1}, 607836 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
FOXN1	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FRAS1	Fraser syndrome 1, 219000 (3)
FREM1	Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3)
FREM2	Fraser syndrome 2, 617666 (3)
FRMD7	Nystagmus 1, congenital, X-linked, 310700 (3) Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
FSHR	Ovarian dysgenesis 1, 233300 (3) Ovarian hyperstimulation syndrome, 608115 (3) Ovarian response to FSH stimulation, 276400 (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)
GABRG2	Febrile seizures, familial, 8, 611277 (3) Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
GALC	Krabbe disease, 245200 (3)
GALNS	Mucopolysaccharidosis IVA, 253000 (3)
GALNT12	{Colorectal cancer, susceptibility to, 1}, 608812 (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)
GATM	Cerebral creatine deficiency syndrome 3, 612718 (3)
GBE1	Glycogen storage disease IV, 232500 (3) Polyglucosan body disease, adult form, 263570 (3)
GCGR	{Diabetes mellitus, noninsulin-dependent}, 125853 (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)
GCSH	?Glycine encephalopathy, 605899 (3)
GDF3	Klippel-Feil syndrome 3, autosomal dominant, 613702 (3) Microphthalmia, isolated 7, 613704 (3) Microphthalmia with coloboma 6, 613703 (3)
GDF5	Brachydactyly, type A1, C, 615072 (3) Brachydactyly, type A2, 112600 (3) Brachydactyly, type C, 113100 (3) Chondrodysplasia, Grebe type, 200700 (3) {Osteoarthritis-5}, 612400 (3) Du Pan syndrome, 228900 (3) Multiple synostoses syndrome 2, 610017 (3) ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) Symphalangism, proximal, 1B, 615298 (3)
GEMIN4	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP	Alexander disease, 203450 (3)
GGCX	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)
GHR	{Hypercholesterolemia, familial, modifier of}, 143890 (3) Growth hormone insensitivity, partial, 604271 (3) Increased responsiveness to growth hormone, 604271 (3) Laron dwarfism, 262500 (3)
GHRL	{Obesity, susceptibility to}, 601665 (3)
GJA3	Cataract 14, multiple types, 601885 (3)
GJB2	Bart-Pumphrey syndrome, 149200 (3) Hystrix-like ichthyosis with deafness, 602540 (3) Deafness, autosomal dominant 3A, 601544 (3) Deafness, autosomal recessive 1A, 220290 (3) Keratitis-ichthyosis-deafness syndrome, 148210 (3) Keratoderma, palmoplantar, with deafness, 148350 (3) Vohwinkel syndrome, 124500 (3)
GJB4	Erythrokeratodermia variabilis et progressiva 2, 617524 (3)
GJC2	Leukodystrophy, hypomyelinating, 2, 608804 (3) Lymphatic malformation 3, 613480 (3) Spastic paraplegia 44, autosomal recessive, 613206 (3)
GLB1	GM1-gangliosidosis, type I, 230500 (3) GM1-gangliosidosis, type II, 230600 (3) GM1-gangliosidosis, type III, 230650 (3) Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GLE1	Congenital arthrogryposis with anterior horn cell disease, 611890 (3) Lethal congenital contracture syndrome 1, 253310 (3)
GLI1	Polydactyly, postaxial, type A8, 618123 (3)
GLI2	Holoprosencephaly 9, 610829 (3) Culler-Jones syndrome, 615849 (3)
GLI3	{Hypothalamic hamartomas, somatic}, 241800 (3) Greig cephalopolysyndactyly syndrome, 175700 (3) Pallister-Hall syndrome, 146510 (3) Polydactyly, postaxial, types A1 and B, 174200 (3) Polydactyly, preaxial, type IV, 174700 (3)
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GM2A	GM2-gangliosidosis, AB variant, 272750 (3)
GNAI2	Pituitary ACTH-secreting adenoma (3) Ventricular tachycardia, idiopathic, 192605 (3)
GORAB	Geroderma osteodysplasticum, 231070 (3)
GOT1	Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
GP1BA	Bernard-Soulier syndrome, type A1 (recessive), 231200 (3) Bernard-Soulier syndrome, type A2 (dominant), 153670 (3) {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3) von Willebrand disease, platelet-type, 177820 (3)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
GP9	Bernard-Soulier syndrome, type C, 231200 (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)
GPIHBP1	Hyperlipoproteinemia, type 1D, 615947 (3)
GPSM2	Chudley-McCullough syndrome, 604213 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GRIP1	Fraser syndrome 3, 617667 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GSN	Amyloidosis, Finnish type, 105120 (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)
GYPB	{Malaria, resistance to}, 611162 (3) [Blood group, Ss], 111740 (3)
GYS2	Glycogen storage disease 0, liver, 240600 (3)
H6PD	Cortisone reductase deficiency 1, 604931 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
HAL	[Histidinemia], 235800 (3)
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HERC2	Mental retardation, autosomal recessive 38, 615516 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
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)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HMCN1	{Macular degeneration, age-related, 1}, 603075 (3)
HMGCR	[Low density lipoprotein cholesterol level QTL 3] (3) [Statins, attenuated cholesterol lowering by] (3)
HNF1A	Hepatic adenoma, somatic, 142330 (3) Diabetes mellitus, insulin-dependent, 20, 612520 (3) MODY, type III, 600496 (3) Renal cell carcinoma, 144700 (3) {Diabetes mellitus, insulin-dependent}, 222100 (3) {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HNF1B	Diabetes mellitus, noninsulin-dependent, 125853 (3) {Renal cell carcinoma}, 144700 (3) Renal cysts and diabetes syndrome, 137920 (3)
HNMT	Mental retardation, autosomal recessive 51, 616739 (3) {Asthma, susceptibility to}, 600807 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3)
HOXA13	Guttmacher syndrome, 176305 (3) Hand-foot-uterus syndrome, 140000 (3)
HOXB13	{Prostate cancer, hereditary, 9}, 610997 (3)
HPD	Hawkinsinuria, 140350 (3) Tyrosinemia, type III, 276710 (3)
HPS1	Hermansky-Pudlak syndrome 1, 203300 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
HR	Alopecia universalis, 203655 (3) Atrichia with papular lesions, 209500 (3) Hypotrichosis 4, 146550 (3)
HRG	Thrombophilia due to HRG deficiency, 613116 (3) Thrombophilia due to elevated HRG, 613116 (1)
HSD17B4	D-bifunctional protein deficiency, 261515 (3) Perrault syndrome 1, 233400 (3)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) Schwartz-Jampel syndrome, type 1, 255800 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
HYLS1	Hydrolethalus syndrome, 236680 (3)
IDUA	Mucopolysaccharidosis Ih, 607014 (3) Mucopolysaccharidosis Ih/s, 607015 (3) Mucopolysaccharidosis Is, 607016 (3)
IFIH1	Aicardi-Goutieres syndrome 7, 615846 (3) Singleton-Merten syndrome 1, 182250 (3)
IFITM3	{Influenza, severe, susceptibility to}, 614680 (3)
IFITM5	Osteogenesis imperfecta, type V, 610967 (3)
IFNAR2	{Hepatitis B virus, susceptibility to}, 610424 (3) ?Immunodeficiency 45, 616669 (3)
IFT80	Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IGFALS	Acid-labile subunit, deficiency of, 615961 (3)
IGHM	Agammaglobulinemia 1, 601495 (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)
IL23R	{Inflammatory bowel disease 17, protection against}, 612261 (3) {Psoriasis, protection against}, 605606 (3)
IL31RA	?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL4R	{AIDS, slow progression to}, 609423 (3) {Atopy, susceptibility to}, 147050 (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)
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)
IRAK3	{Asthma susceptibility 5}, 611064 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
IRF6	{Orofacial cleft 6}, 608864 (3) Popliteal pterygium syndrome 1, 119500 (3) van der Woude syndrome, 119300 (3)
IRS2	{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)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
IYD	Thyroid dyshormonogenesis 4, 274800 (3)
JPH2	Cardiomyopathy, hypertrophic, 17, 613873 (3)
JPH3	Huntington disease-like 2, 606438 (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
KALRN	{Coronary heart disease, susceptibility to, 5}, 608901 (3)
KANK1	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KANSL1	Koolen-De Vries syndrome, 610443 (3)
KARS	Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KAT6B	Genitopatellar syndrome, 606170 (3) SBBYSS syndrome, 603736 (3)
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)
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)
KCNK18	{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNMB1	{Hypertension, diastolic, resistance to}, 608622 (3)
KCNQ1	Atrial fibrillation, familial, 3, 607554 (3) {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) Long QT syndrome 1, 192500 (3) Jervell and Lange-Nielsen syndrome, 220400 (3) Short QT syndrome 2, 609621 (3)
KCNQ2	Epileptic encephalopathy, early infantile, 7, 613720 (3) Myokymia, 121200 (3) Seizures, benign neonatal, 1, 121200 (3)
KCNQ4	Deafness, autosomal dominant 2A, 600101 (3)
KDR	{Hemangioma, capillary infantile, susceptibility to}, 602089 (3) Hemangioma, capillary infantile, somatic, 602089 (3)
KEL	[Blood group, Kell], 110900 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KIF7	Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KISS1	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3) ?Precocious puberty, central, 1, 176400 (3)
KIT	Gastrointestinal stromal tumor, familial, 606764 (3) Germ cell tumors, somatic, 273300 (3) Leukemia, acute myeloid, 601626 (3) Mastocytosis, cutaneous, 154800 (3) Mastocytosis, systemic, somatic, 154800 (3) Piebaldism, 172800 (3)
KL	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
KLF1	Blood group--Lutheran inhibitor, 111150 (3) Dyserythropoietic anemia, congenital, type IV, 613673 (3) [Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1	[Kallikrein, decreased urinary activity of], 615953 (3)
KLK4	Amelogenesis imperfecta, type IIA1, 204700 (3)
KLKB1	Fletcher factor (prekallikrein) deficiency, 612423 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
KNG1	[High molecular weight kininogen deficiency], 228960 (3) [Kininogen deficiency], 228960 (3)
KRT1	Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
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)
KRT2	Ichthyosis bullosa of Siemens, 146800 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
KRT5	Dowling-Degos disease 1, 179850 (3) Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) Epidermolysis bullosa simplex, Koebner type, 131900 (3) Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) Epidermolysis bullosa simplex, recessive 1, 601001 (3) Epidermolysis bullosa simplex-MCR, 609352 (3) Epidermolysis bullosa simplex-MP, 131960 (3)
KRT6A	Pachyonychia congenita 3, 615726 (3)
KRT74	?Ectodermal dysplasia 7, hair/nail type, 614929 (3) ?Hypotrichosis 3, 613981 (3) Woolly hair, autosomal dominant, 194300 (3)
KRT75	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT8	Cirrhosis, cryptogenic, 215600 (3) {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81	Monilethrix, 158000 (3)
KRT83	Erythrokeratodermia variabilis et progressiva 5, 617756 (3) Monilethrix, 158000 (3)
KRT86	Monilethrix, 158000 (3)
L2HGDH	L-2-hydroxyglutaric aciduria, 236792 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Laryngoonychocutaneous syndrome, 245660 (3)
LAMA4	Cardiomyopathy, dilated, 1JJ, 615235 (3)
LAMB1	Lissencephaly 5, 615191 (3)
LAMB3	Amelogenesis imperfecta, type IA, 104530 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
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)
LHX4	Pituitary hormone deficiency, combined, 4, 262700 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LIPC	Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LIPE	Lipodystrophy, familial partial, type 6, 615980 (3)
LIPI	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
LMAN1	Combined factor V and VIII deficiency, 227300 (3)
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LMF1	Lipase deficiency, combined, 246650 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
LOXHD1	Deafness, autosomal recessive 77, 613079 (3)
LOXL1	{Exfoliation syndrome, susceptibility to}, 177650 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LPIN1	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
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)
LRRC6	Ciliary dyskinesia, primary, 19, 614935 (3)
LRRK2	{Parkinson disease 8}, 607060 (3)
LRSAM1	Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
LTA	{Leprosy, susceptibility to, 4}, 610988 (3) {Myocardial infarction, susceptibility to}, 608446 (3) {Psoriatic arthritis, susceptibility to}, 607507 (3)
MAD1L1	Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (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)
MASP2	MASP2 deficiency, 613791 (3)
MC1R	{Melanoma, cutaneous malignant, 5}, 613099 (3) {UV-induced skin damage}, 266300 (3) [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) {Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MC4R	Obesity, autosomal dominant, 601665 (3)
MCEE	Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MCM4	Immunodeficiency 54, 609981 (3)
MCPH1	Microcephaly 1, primary, autosomal recessive, 251200 (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)
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MKKS	Bardet-Biedl syndrome 6, 605231 (3) McKusick-Kaufman syndrome, 236700 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
MLH3	Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3)
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MME	Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3) ?Spinocerebellar ataxia 43, 617018 (3)
MMP14	?Winchester syndrome, 277950 (3)
MMP20	Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP9	Metaphyseal anadysplasia 2, 613073 (3)
MNX1	Currarino syndrome, 176450 (3)
MOCOS	Xanthinuria, type II, 603592 (3)
MOG	?Narcolepsy 7, 614250 (3)
MOGS	Congenital disorder of glycosylation, type IIb, 606056 (3)
MPDZ	Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MRPL3	Combined oxidative phosphorylation deficiency 9, 614582 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MSH5	?Premature ovarian failure 13, 617442 (3)
MSR1	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
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)
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MTTP	Abetalipoproteinemia, 200100 (3) {Metabolic syndrome, protection against}, 605552 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MUC7	{Asthma, protection against}, 600807 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (3)
MYBPC1	Arthrogryposis, distal, type 1B, 614335 (3) Lethal congenital contracture syndrome 4, 614915 (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)
MYH6	Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3)
MYH8	Carney complex variant, 608837 (3) Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
MYO15A	Deafness, autosomal recessive 3, 600316 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
MYO1E	Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYO5A	Griscelli syndrome, type 1, 214450 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
MYO7A	Deafness, autosomal dominant 11, 601317 (3) Deafness, autosomal recessive 2, 600060 (3) Usher syndrome, type 1B, 276900 (3)
MYO9B	{Celiac disease, susceptibility to, 4}, 609753 (3)
MYOC	Glaucoma 1A, primary open angle, 137750 (3)
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)
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NAGS	N-acetylglutamate synthase deficiency, 237310 (3)
NARS2	Combined oxidative phosphorylation deficiency 24, 616239 (3)
NAT2	[Acetylation, slow], 243400 (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)
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDN	Prader-Willi syndrome, 176270 (3)
NDUFS3	Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (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)
NFKB1	Immunodeficiency, common variable, 12, 616576 (3)
NFKBIL1	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
NFU1	Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NGF	Neuropathy, hereditary sensory and autonomic, type V, 608654 (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)
NODAL	Heterotaxy, visceral, 5, 270100 (3)
NOS3	{Hypertension, pregnancy-induced}, 189800 (3) {Hypertension, susceptibility to}, 145500 (3) {Ischemic stroke, susceptibility to}, 601367 (3) {Placental abruption} (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) {Coronary artery spasm 1, susceptibility to} (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)
NPPA	Atrial fibrillation, familial, 6, 612201 (3) Atrial standstill 2, 615745 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
NQO1	{Leukemia, post-chemotherapy, susceptibility to} (3) {Benzene toxicity, susceptibility to} (3) {Breast cancer, poor survival after chemotherapy for} (3)
NQO2	{?Breast cancer susceptibility}, 114480 (1)
NR3C2	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
NRG1	{?Schizophrenia, susceptibility to}, 603013 (1)
NRIP1	?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
NT5E	Calcification of joints and arteries, 211800 (3)
NTRK1	Insensitivity to pain, congenital, with anhidrosis, 256800 (3) Medullary thyroid carcinoma, familial, 155240 (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)
OSMR	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OTOA	Deafness, autosomal recessive 22, 607039 (3)
OTOF	Auditory neuropathy, autosomal recessive, 1, 601071 (3) Deafness, autosomal recessive 9, 601071 (3)
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)
PCCA	Propionicacidemia, 606054 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PCK1	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCK2	PEPCK deficiency, mitochondrial, 261650 (1)
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)
PDE6B	Night blindness, congenital stationary, autosomal dominant 2, 163500 (3) Retinitis pigmentosa-40, 613801 (3)
PDE6C	Cone dystrophy 4, 613093 (3)
PDHB	Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PER2	Advanced sleep phase syndrome, familial, 1, 604348 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX14	Peroxisome biogenesis disorder 13A (Zellweger), 614887 (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)
PFKM	Glycogen storage disease VII, 232800 (3)
PGM1	Congenital disorder of glycosylation, type It, 614921 (3)
PHIP	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PHOX2B	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3) {Neuroblastoma, susceptibility to, 2}, 613013 (3) Neuroblastoma with Hirschsprung disease, 613013 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
PIK3CA	CLAPO syndrome, somatic, 613089 (3) CLOVE syndrome, somatic, 612918 (3) Gastric cancer, somatic, 613659 (3) Breast cancer, somatic, 114480 (3) Hepatocellular carcinoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 5, 615108 (3) Keratosis, seborrheic, somatic, 182000 (3) Macrodactyly, somatic, 155500 (3) Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3) Nevus, epidermal, somatic, 162900 (3) Nonsmall cell lung cancer, somatic, 211980 (3) Ovarian cancer, somatic, 167000 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIKFYVE	Corneal fleck dystrophy, 121850 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PKD1	Polycystic kidney disease 1, 173900 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PKP1	Ectodermal dysplasia/skin fragility syndrome, 604536 (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)
PLCE1	Nephrotic syndrome, type 3, 610725 (3)
PLIN1	Lipodystrophy, familial partial, type 4, 613877 (3)
PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (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)
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)
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
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)
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POU3F4	Deafness, X-linked 2, 304400 (3)
PPARG	Carotid intimal medial thickness 1, 609338 (3) Lipodystrophy, familial partial, type 3, 604367 (3) Insulin resistance, severe, digenic, 604367 (3) Obesity, severe, 601665 (3) [Obesity, resistance to] (3) {Diabetes, type 2}, 125853 (3)
PPP1R3A	Insulin resistance, severe, digenic, 125853 (3)
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRKRA	Dystonia 16, 612067 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
PROP1	Pituitary hormone deficiency, combined, 2, 262600 (3)
PRPH2	Choroidal dystrophy, central areolar 2, 613105 (3) Leber congenital amaurosis 18, 608133 (3) Macular dystrophy, patterned, 1, 169150 (3) Macular dystrophy, vitelliform, 3, 608161 (3) Retinitis pigmentosa 7 and digenic form, 608133 (3) Retinitis punctata albescens, 136880 (3)
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
PRSS12	Mental retardation, autosomal recessive 1, 249500 (3)
PRSS56	Microphthalmia, isolated 6, 613517 (3)
PRX	Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (3)
PSMB8	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
PSMC3IP	Ovarian dysgenesis 3, 614324 (3)
PSPH	Phosphoserine phosphatase deficiency, 614023 (3)
PTCH1	Basal cell carcinoma, somatic, 605462 (3) Basal cell nevus syndrome, 109400 (3) Holoprosencephaly 7, 610828 (3)
PTF1A	Pancreatic agenesis 2, 615935 (3) Pancreatic and cerebellar agenesis, 609069 (3)
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)
RAB23	Carpenter syndrome, 201000 (3)
RAB3GAP1	Warburg micro syndrome 1, 600118 (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)
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)
RELN	Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3)
RFXANK	MHC class II deficiency, complementation group B, 209920 (3)
RHBDF2	Tylosis with esophageal cancer, 148500 (3)
RHCE	Rh-null disease, amorph type, 617970 (3) [Blood group, Rhesus] (3)
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RIPK4	CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RNASEL	Prostate cancer 1, 601518 (3)
RNF168	RIDDLE syndrome, 611943 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
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)
RPE65	Leber congenital amaurosis 2, 204100 (3) Retinitis pigmentosa 20, 613794 (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)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3)
RPS17	Diamond-Blackfan anemia 4, 612527 (3)
RSPH4A	Ciliary dyskinesia, primary, 11, 612649 (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)
SARDH	[Sarcosinemia], 268900 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCN10A	Episodic pain syndrome, familial, 2, 615551 (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)
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)
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)
SCO1	Mitochondrial complex IV deficiency, 220110 (3)
SDC3	{Obesity, association with}, 601665 (3)
SDCCAG8	Bardet-Biedl syndrome 16, 615993 (3) Senior-Loken syndrome 7, 613615 (3)
SDHAF1	Mitochondrial complex II deficiency, 252011 (3)
SEC23A	Craniolenticulosutural dysplasia, 607812 (3)
SEC23B	Dyserythropoietic anemia, congenital, type II, 224100 (3) ?Cowden syndrome 7, 616858 (3)
SEMA3E	?CHARGE syndrome, 214800 (3)
SEPT9	Amyotrophy, hereditary neuralgic, 162100 (3) Leukemia, acute myeloid, therapy-related (1) Ovarian carcinoma (1)
SERPINA1	Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) Emphysema due to AAT deficiency, 613490 (3) Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3	Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3)
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)
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)
SIAE	{Autoimmune disease, susceptibility to, 6}, 613551 (3)
SIGMAR1	?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
SIM1	Obesity, severe, 601665 (3)
SIX5	Branchiootorenal syndrome 2, 610896 (3)
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SKIV2L	Trichohepatoenteric syndrome 2, 614602 (3)
SLC10A2	Bile acid malabsorption, primary, 613291 (3)
SLC11A2	Anemia, hypochromic microcytic, with iron overload 1, 206100 (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)
SLC16A12	Cataract 47, juvenile, with microcornea, 612018 (3)
SLC16A2	Allan-Herndon-Dudley syndrome, 300523 (3)
SLC22A4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC24A1	Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
SLC24A5	Albinism, oculocutaneous, type VI, 113750 (3) [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3)
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLC25A19	Microcephaly, Amish type, 607196 (3) Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (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)
SLC2A9	Hypouricemia, renal, 2, 612076 (3) {Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A8	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC34A2	Pulmonary alveolar microlithiasis, 265100 (3)
SLC34A3	Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC35C1	Congenital disorder of glycosylation, type IIc, 266265 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC39A13	Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC39A4	Acrodermatitis enteropathica, 201100 (3)
SLC3A1	Cystinuria, 220100 (3)
SLC45A2	Albinism, oculocutaneous, type IV, 606574 (3) [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SLC52A1	Riboflavin deficiency, 615026 (3)
SLC5A7	Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3) Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)
SLC6A5	Hyperekplexia 3, 614618 (3)
SLC7A9	Cystinuria, 220100 (3)
SLCO1B1	Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3	Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
SMARCAD1	Adermatoglyphia, 136000 (3) Basan syndrome, 129200 (3) Huriez syndrome, 181600 (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)
SOD3	[Superoxide dismutase, elevated extracellular] (3)
SOHLH1	Ovarian dysgenesis 5, 617690 (3) Spermatogenic failure 32, 618115 (3)
SP110	Hepatic venoocclusive disease with immunodeficiency, 235550 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPATA16	?Spermatogenic failure 6, 102530 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPINK5	Netherton syndrome, 256500 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)
SPTB	Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3) Elliptocytosis-3, 617948 (3) Spherocytosis, type 2, 616649 (3)
SPTBN2	Spinocerebellar ataxia 5, 600224 (3) Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
SRD5A3	Congenital disorder of glycosylation, type Iq, 612379 (3) Kahrizi syndrome, 612713 (3)
SSTR5	Somatostatin analog, resistance to (3)
STEAP3	?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)
STIL	Microcephaly 7, primary, autosomal recessive, 612703 (3)
STOX1	Preeclampsia/eclampsia 4, 609404 (3)
STRA6	Microphthalmia, isolated, with coloboma 8, 601186 (3) Microphthalmia, syndromic 9, 601186 (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)
T	{Neural tube defects, susceptibility to}, 182940 (3) Sacral agenesis with vertebral anomalies, 615709 (3)
TAC3	Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)
TAF2	Mental retardation, autosomal recessive 40, 615599 (3)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP	Bare lymphocyte syndrome, type I, 604571 (3)
TAS2R16	[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38	[Phenylthiocarbamide tasting], 171200 (3)
TBC1D4	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TBX1	Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3)
TBX15	Cousin syndrome, 260660 (3)
TBX4	Ischiocoxopodopatellar syndrome, 147891 (3)
TBXAS1	Ghosal hematodiaphyseal syndrome, 231095 (3) ?Thromboxane synthase deficiency, 614158 (1)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TDGF1	Forebrain defects (3)
TDRD7	Cataract 36, 613887 (3)
TECTA	Deafness, autosomal dominant 8/12, 601543 (3) Deafness, autosomal recessive 21, 603629 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
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)
TGM1	Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TGM6	Spinocerebellar ataxia 35, 613908 (3)
TH	Segawa syndrome, recessive, 605407 (3)
THBD	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) Thrombophilia due to thrombomodulin defect, 614486 (3)
TJP2	Cholestasis, progressive familial intrahepatic 4, 615878 (3) Hypercholanemia, familial, 607748 (3)
TLL1	Atrial septal defect 6, 613087 (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)
TMC8	Epidermodysplasia verruciformis 2, 618231 (3)
TMEM173	STING-associated vasculopathy, infantile-onset, 615934 (3)
TMEM216	Joubert syndrome 2, 608091 (3) Meckel syndrome 2, 603194 (3)
TMEM43	Arrhythmogenic right ventricular dysplasia 5, 604400 (3) Emery-Dreifuss muscular dystrophy 7, AD, 614302 (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)
TMPRSS15	Enterokinase deficiency, 226200 (3)
TMPRSS3	Deafness, autosomal recessive 8/10, 601072 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TNC	Deafness, autosomal dominant 56, 615629 (3)
TNFRSF10B	Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11A	{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3)
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)
TRAF3IP2	{Psoriasis susceptibility 13}, 614070 (3) ?Candidiasis, familial, 8, 615527 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TRIP11	Achondrogenesis, type IA, 200600 (3) Osteochondrodysplasia, 184260 (3)
TRPA1	?Episodic pain syndrome, familial, 1, 615040 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM6	Hypomagnesemia 1, intestinal, 602014 (3)
TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TRPV3	Olmsted syndrome, 614594 (3) ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TRPV4	Brachyolmia type 3, 113500 (3) Hereditary motor and sensory neuropathy, type IIc, 606071 (3) Digital arthropathy-brachydactyly, familial, 606835 (3) Metatropic dysplasia, 156530 (3) Parastremmatic dwarfism, 168400 (3) ?Avascular necrosis of femoral head, primary, 2, 617383 (3) SED, Maroteaux type, 184095 (3) Scapuloperoneal spinal muscular atrophy, 181405 (3) Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3) [Sodium serum level QTL 1], 613508 (3)
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)
TSHZ1	Aural atresia, congenital, 607842 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TTBK2	Spinocerebellar ataxia 11, 604432 (3)
TTC21B	Nephronophthisis 12, 613820 (3) Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
TTC37	Trichohepatoenteric syndrome 1, 222470 (3)
TTI2	Mental retardation, autosomal recessive 39, 615541 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (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)
TYK2	Immunodeficiency 35, 611521 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UBA1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
UCP2	{Obesity, susceptibility to, BMIQ4}, 607447 (3)
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UPB1	Beta-ureidopropionase deficiency, 613161 (3)
USH2A	Retinitis pigmentosa 39, 613809 (3) Usher syndrome, type 2A, 276901 (3)
UVSSA	UV-sensitive syndrome 3, 614640 (3)
VANGL1	Caudal regression syndrome, 600145 (3) {Neural tube defects, susceptibility to}, 182940 (3)
VCAN	Wagner syndrome 1, 143200 (3)
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)
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)
WDR4	Galloway-Mowat syndrome 6, 618347 (3) Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (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)
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)
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)
XPC	Xeroderma pigmentosum, group C, 278720 (3)
XRCC1	?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)
XYLT2	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) Spondyloocular syndrome, 605822 (3)
ZBTB18	Mental retardation, autosomal dominant 22, 612337 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZFP57	Diabetes mellitus, transient neonatal, 1, 601410 (3)
ZFPM2	Diaphragmatic hernia 3, 610187 (3) 46XY sex reversal 9, 616067 (3) Tetralogy of Fallot, 187500 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)
ZFYVE27	Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZNF335	Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

A2M, A4GALT, AARS2, ABAT, ABCA1, ABCA12, ABCA4, ABCB1, ABCB11, ABCC11, ABCC2, ABCC6, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ACAN, ACAT1, ACSF3, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADRB1, ADRB2, AGA, AGL, AGRN, AGT, AIP, AKAP9, ALDH5A1, ALDH7A1, ALG1, ALG2, ALG6, ALG9, ALK, ALMS1, ALOXE3, ALPL, ALS2, ALS2CL, ALX4, AMACR, AMH, AMPD1, AMT, ANK2, ANKRD11, ANKRD26, ANO10, ANTXR2, AP3B1, AP4B1, AP4E1, APC, APOB, APOE, AR, ARHGAP31, ARID1A, ARL13B, ARSA, ARSB, ARSE, ASAH1, ASCL1, ASNS, ASPM, ASXL1, ATF6, ATIC, ATM, ATN1, ATP6V0A4, ATP7A, ATP7B, ATP8B1, ATR, ATXN1, ATXN3, ATXN7, AXIN2, B9D2, BAAT, BAG3, BARD1, BBS12, BBS2, BBS4, BCAM, BCL10, BCR, BDNF, BICC1, BLVRA, BMP2, BMP4, BMPER, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BRWD3, C4A, C5, C7, C8B, C9, CACNA1A, CACNA1F, CACNA1G, CACNA1S, CACNA2D4, CACNB2, CARD14, CASP8, CASR, CC2D1A, CCDC14, CCDC8, CCDC88C, CCM2, CD19, CD207, CD27, CD3G, CD44, CD96, CDAN1, CDC6, CDH15, CDH23, CDK5RAP2, CDKN1B, CDON, CDSN, CDT1, CEL, CENPJ, CEP152, CEP63, CETP, CFB, CFH, CFHR4, CFI, CFTR, CHAT, CHD8, CHRNA2, CHST3, CHSY1, CHUK, CIDEC, CIITA, CLCN1, CLCNKA, CLCNKB, CLN5, CNGA1, CNGB1, CNGB3, COCH, COG4, COG5, COG6, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL6A1, COL6A2, COL6A3, COL8A2, COL9A2, COQ2, COQ4, CORIN, CP, CPOX, CPS1, CR1, CR2, CRELD1, CRYBB3, CRYGB, CTC1, CTDP1, CTNNA3, CTNS, CTSC, CUBN, CUL7, CYBA, CYP1A2, CYP1B1, CYP21A2, CYP27A1, CYP2A6, CYP2B6, CYP2D6, CYP4F2, CYP4V2, D2HGDH, DAG1, DBT, DCAF17, DCC, DCDC2, DCLRE1C, DDC, DDOST, DDX11, DFNA5, DGCR2, DGUOK, DHDDS, DHODH, DIS3L2, DLAT, DMD, DMGDH, DMPK, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI2, DNAJC6, DNASE1, DNMT1, DOCK6, DOCK8, DOK7, DPY19L2, DPYD, DSC3, DSG1, DSG4, DSP, DST, DUOX2, DUOXA2, DYM, DYNC2H1, DYX1C1, EARS2, ECM1, EDARADD, EDN3, EFEMP2, EFHC1, EGF, EGFR, EGLN1, EHMT1, EIF2AK3, EIF2B5, EIF4G1, ELN, ELOVL4, EMG1, ENG, ENO3, ENPP1, EP300, EPCAM, EPHX1, ERCC5, ESRRB, ETFB, ETFDH, EVC, EVC2, EYA4, EYS, F12, F13A1, F13B, F5, FAM20A, FAM20C, FAM83H, FANCA, FANCD2, FANCG, FANCI, FARS2, FBLN1, FBN1, FBN2, FBP1, FBXO7, FCGR3A, FCN3, FGA, FGF23, FGFR1, FIG4, FIGLA, FLNB, FLVCR1, FLVCR2, FMN2, FMO3, FN1, FOXC1, FOXE1, FOXN1, FRAS1, FREM1, FREM2, FRMD7, FSHR, FUT3, FUT6, FYCO1, FZD6, GAA, GABRG2, GALC, GALNS, GALNT12, GARS, GATA2, GATM, GBE1, GCNT2, GCSH, GDF3, GDF5, GFAP, GGCX, GHR, GJA3, GJB2, GJB4, GJC2, GLB1, GLE1, GLI2, GLI3, GLIS3, GM2A, GORAB, GP1BA, GP6, GP9, GPC3, GPC6, GPIHBP1, GPSM2, GRIP1, GRM6, GSN, GUCY2C, GUCY2D, GUSB, GYPA, GYPB, GYS2, H6PD, HADH, HADHB, HAL, HEPACAM, HERC2, HEXA, HEXB, HGD, HIBCH, HLA-A, HLA-B, HMCN1, HMGCR, HNF1A, HNF1B, HNMT, HOXA1, HOXA13, HPD, HPS1, HPS4, HPSE2, HR, HRG, HSD17B4, HSD3B7, HSPA1L, HSPG2, HTT, HYLS1, IDUA, IFIH1, IFITM5, IFNAR2, IFT80, IGFALS, IGHM, IGHMBP2, IKBKAP, IL10RA, IL10RB, IL31RA, IL7R, ILDR1, IMPG2, INSL3, INSR, IQCB1, IRF6, ISCU, ISPD, ITGA2B, ITGA3, ITGA7, ITGB2, ITGB4, IYD, JPH2, JPH3, JUP, KANK1, KANSL1, KARS, KAT6B, KBTBD13, KCNC3, KCNE1, KCNJ11, KCNJ13, KCNJ5, KCNK18, KCNQ1, KCNQ2, KCNQ4, KEL, KIAA1033, KIF1A, KIF7, KISS1, KISS1R, KIT, KL, KLF1, KLK4, KLKB1, KNG1, KRT1, KRT10, KRT13, KRT14, KRT2, KRT3, KRT5, KRT6A, KRT74, KRT75, KRT81, KRT83, KRT86, L2HGDH, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB3, LAMC3, LBR, LCA5, LCT, LDLRAP1, LEPR, LHCGR, LHX4, LIFR, LIPC, LIPE, LIPI, LMAN1, LMBRD1, LMF1, LOR, LOXHD1, LPA, LPIN1, LRP1, LRP2, LRP4, LRP5, LRRC6, LRRK2, LRSAM1, MAN1B1, MAN2B1, MANBA, MAP3K1, MASP2, MASTL, MC1R, MC4R, MCEE, MCM4, MCPH1, MED17, MEFV, MEN1, MERTK, MESP2, MKKS, MLH3, MMAB, MMP14, MMP20, MMP9, MNX1, MOG, MOGS, MPDZ, MRPL3, MSH3, MSR1, MSX2, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUT, MYBPC1, MYH11, MYH14, MYH6, MYH8, MYH9, MYLK, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO7A, MYOC, MYOT, MYPN, NAGLU, NAGS, NARS2, NAT2, NBEAL2, NBN, NCF1, NCF4, NDUFS3, NDUFS7, NDUFV2, NEB, NEFH, NEUROD1, NEUROG3, NFKB1, NFU1, NGF, NLRP1, NME8, NOBOX, NODAL, NOTCH2, NOTCH3, NPAT, NPC1, NPHP4, NPPA, NR3C2, NRIP1, NSD1, NT5E, NTRK1, NUP62, OBSL1, OCA2, OPA1, OPTN, ORAI1, OSMR, OTOA, OTOF, PANK2, PARK2, PAX4, PCCA, PCDH15, PCNT, PCSK9, PDE11A, PDE6B, PDE6C, PDHB, PER2, PER3, PEX14, PEX16, PEX2, PFKM, PGM1, PHOX2B, PIEZO2, PIGN, PIK3CA, PIK3R1, PIK3R2, PIKFYVE, PITX1, PKD1, PKHD1, PKP1, PLA2G4A, PLA2G7, PLAU, PLCE1, PLEC, PLIN1, PLOD1, PMS2, PNP, PNPLA1, PNPLA2, POF1B, POLG, POMGNT1, POMT1, POMT2, PON1, POR, POU3F4, PPARG, PPP1R3A, PRKAG3, PRKDC, PRKRA, PRODH, PROP1, PRPH2, PRRT2, PRSS1, PRSS12, PRSS56, PRX, PSMB8, PSMC3IP, PSPH, PTCH1, PTF1A, PTPRQ, RAB23, RAB3GAP1, RAG1, RAI1, RAX, RB1CC1, RBM20, RBP3, RECQL4, RELN, RFXANK, RHBDF2, RHCE, RIN2, RIPK4, RNASEL, RNF168, RNF213, ROBO3, ROM1, ROR2, RP1, RP1L1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS17, RSPH4A, RXFP2, RYR1, SAG, SALL1, SALL4, SART3, SCARF2, SCN1A, SCN1B, SCN4A, SCN9A, SCNN1A, SCO1, SDCCAG8, SDHAF1, SEC23A, SEC23B, SEMA3E, SEPN1, SEPT9, SERPINA1, SERPINA6, SERPINF1, SERPINF2, SETBP1, SETD2, SETX, SFTPA2, SFTPB, SGCG, SGSH, SHANK3, SHROOM4, SI, SIGMAR1, SIX5, SIX6, SKIV2L, SLC10A2, SLC11A2, SLC12A1, SLC12A3, SLC14A1, SLC16A1, SLC16A12, SLC16A2, SLC24A1, SLC25A15, SLC25A19, SLC26A2, SLC29A3, SLC2A9, SLC34A2, SLC34A3, SLC35C1, SLC37A4, SLC39A13, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC4A4, SLC52A1, SLC5A7, SLC6A5, SLC7A9, SLCO1B1, SLCO1B3, SLCO2A1, SMARCA2, SMARCAD1, SMPD1, SOBP, SP110, SPATA16, SPATA7, SPECC1L, SPG11, SPINK5, SPTA1, SPTB, SPTBN2, SRD5A3, SSTR5, STEAP3, STIL, STRA6, STRC, STXBP2, SUCLA2, SYNE1, SYNE2, T, TAC3, TAF2, TAP2, TAPBP, TAS2R38, TBC1D4, TBX1, TBX15, TBX4, TBXAS1, TCF4, TCN2, TDGF1, TDRD7, TECTA, TEK, TF, TFRC, TG, TGFB1, TGM1, TGM6, TH, THBD, TJP2, TLL1, TMC6, TMC8, TMEM173, TMEM216, TMEM43, TMEM67, TMPRSS15, TMPRSS3, TMPRSS6, TNC, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNXB, TP53, TPCN2, TPO, TRAF3IP2, TRDN, TRIOBP, TRIP11, TRPA1, TRPM1, TRPM6, TRPV3, TRPV4, TSEN54, TSHB, TSHR, TSHZ1, TSPYL1, TTBK2, TTC21B, TTC37, TTI2, TTN, TUBB1, TUBGCP6, TULP1, TYK2, TYMP, UBA1, UNC13D, UPB1, UPK3A, USH2A, UVSSA, VANGL1, VCAN, VDR, VPS13B, VWF, WDR62, WDR72, WDR81, WFS1, WIPF1, WISP3, WNK1, WRAP53, WRN, WWOX, XPC, ZBTB18, ZFP57, ZFPM2, ZFYVE26, ZFYVE27, ZNF335, ZNF469, ZNF674,

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
ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCB1	Colchicine metabolism, association with
ABCB11	Cholestasis, progressive familial intrahepatic 2
ABCC11	Apocrine gland secretion, variation in
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
ABCG2	Blood group, junior system
ABCG5	Sitosterolemia
ABCG8	Sitosterolemia
ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ACAT1	Alpha-methylacetoacetic aciduria
ACSF3	Combined malonic and methylmalonic aciduria
ADAMTS10	Weill-Marchesani syndrome 1
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
ADAMTSL2	Geleophysic dysplasia 1
ADAMTSL4	Ectopia lentis, isolated, autosomal recessive
ADAR	Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome 6
ADRB1	Beta-blocker response, association with
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to
AGA	Aspartylglucosaminuria
AGL	Glycogen storage disease III
AGRN	Myasthenic syndrome, congenital 8
AGT	Renal tubular dysgenesis
AIP	Pituitary adenoma, familial isolated
AKAP9	Long QT syndrome 11
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency
ALDH7A1	Epilepsy, pyridoxine-dependent
ALG1	Congenital disorder of glycosylation, type Ik
ALG2	Congenital disorder of glycosylation, type Ii Myasthenic syndrome, congenital 14
ALG6	Congenital disorder of glycosylation, type Ic
ALG9	Congenital disorder of glycosylation, type Il
ALK	Neuroblastoma, susceptibility to, 3
ALMS1	Alstrom syndrome
ALOXE3	Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL	Hypophosphatasia, infantile Odontohypophosphatasia
ALS2	Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2
ALS2CL	Schizophrenia
ALX4	Parietal foramina 2 Frontonasal dysplasia 2
AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
AMH	Persistent Mullerian duct syndrome, type I
AMPD1	Myoadenylate deaminase deficiency
AMT	Glycine encephalopathy
ANK2	Long QT syndrome, 4 Cardiac arrhythmia, ankyrin-B-related
ANKRD11	KBG syndrome
ANKRD26	Thrombocytopenia 2
ANO10	Spinocerebellar ataxia, autosomal recessive 10
ANTXR2	Hyalinosis, infantile systemic Fibromatosis, juveline hyaline
AP3B1	Hermansky-Pudlak syndrome 2
AP4B1	Spastic paraplegia 47, autosomal recessive
AP4E1	Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
APOB	Hypobetalipoproteinemia, familial Hypercholesterolemia, familial
APOE	Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III) Lipoprotein glomerulopathy Sea-blue histiocyte disease
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
ARSA	Metachromatic leukodystrophy
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
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
ATF6	Achromatopsia 7
ATIC	AICAR transformylase/IMP cyclohydrolase deficiency
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
ATN1	Dentatorubro-pallidoluysian atrophy
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
ATXN1	Spinocerebellar ataxia 1
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
ATXN7	Spinocerebellar ataxia 7
AXIN2	Oligodontia-colorectal cancer syndrome
B9D2	Meckel syndrome 10
BAAT	Hypercholanemia, familial
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BARD1	Breast cancer, susceptibility to
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
BCL10	Immunodeficiency 37
BCR	CML treatment, response to
BDNF	Central hypoventilation syndrome, congenital
BICC1	Renal dysplasia, cystic, susceptibility to
BLVRA	Hyperbiliverdinemia
BMP2	Brachydactyly, type A2
BMP4	Microphthalmia, syndromic 6 Orofacial cleft 11
BMPER	Diaphanospondylodysostosis
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BRAF	Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3
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
C4A	Blood group, Chido/Rodgers system
C5	Eculizumab, poor response to Complement component 5 deficiency
C7	Complement component 7 deficiency
C8B	Complement component 8 deficiency, type II
C9	Complement component 9 deficiency
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CACNA1F	Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A
CACNA1G	Spinocerebellar ataxia 42
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
CACNA2D4	Retinal cone dystrophy 4
CACNB2	Brugada syndrome 4
CARD14	Psoriasis 2
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
CCDC8	Three M syndrome 3
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
CD96	C syndrome( Opitz Trigonocephaly syndrome)
CDAN1	Anemia, dyserythropoietic congenital, type Ia
CDC6	Meier-Gorlin syndrome 5
CDH15	Mental retardation, autosomal dominant 3
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CDK5RAP2	Microcephaly, primary autosomal recessive, 3
CDKN1B	Multiple endocrine neoplasia, type IV
CDON	Holoprosencephaly 11
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CDT1	Meier-Gorlin syndrome 4
CEL	Maturity-onset diabetes of the young, type 8
CENPJ	Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6
CEP152	Seckel syndrome 5 Microcephaly 9, primary, autosomal recessive
CEP63	Seckel syndrome 6
CETP	Hyperalphalipoproteinemia 1
CFB	Hemolytic uremic syndrome, atypical Complement factor B deficiency
CFH	Hemolytic uremic syndrome, atypical Complement factor H deficiency
CFHR4	Hemolytic-uremic syndrome, atypical, susceptibility to
CFI	Hemolytic uremic syndrome, atypical Complement factor I deficiency
CFTR	Cystic fibrosis
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CHD8	Autism, susceptibility to 18
CHRNA2	Epilepsy, nocturnal frontal lobe, type 4
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations
CHSY1	Temtamy preaxial brachydactyly syndrome
CHUK	Cocoon syndrome
CIDEC	Lipodystrophy, familial partial, type 5
CIITA	Bare lymphocyte syndrome, type II
CLCN1	Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior
CLCNKA	Bartter syndrome, type 4, digenic
CLCNKB	Bartter syndrome, type 4, digenic Bartter syndrome, type 3
CLN5	Ceroid lipofuscinosis, neuronal, 5
CNGA1	Retinitis pigmentosa 49
CNGB1	Retinitis pigmentosa 45
CNGB3	Achromatopsia 3 Macular degeneration, juvenile
COCH	Deafness, autosomal dominant 9
COG4	Congenital disorder of glycosylation, type IIj
COG5	Congenital disorder of glycosylation, type IIi
COG6	Congenital disorder of glycosylation, type Iil
COL10A1	Metaphyseal chondrodysplasia, Schmid type
COL11A1	Stickler syndrome, type II Fibrochondrogenesis Marshall syndrome
COL11A2	Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL18A1	Knobloch syndrome 1
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
COL4A5	Alport syndrome, X-linked
COL4A6	Deafness, X-linked, with cochlear malformation
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
COL8A2	Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, Fuchs endothelial, 1
COL9A2	Stickler syndrome, Type V
COQ2	Coenzyme Q10 deficiency 1
COQ4	Coenzyme Q10 deficiency 7
CORIN	Preeclampsia/eclampsia 5
CP	Aceruloplasminemia Hypoceruloplasminemia
CPOX	Coproporphyria Harderoporphyria
CPS1	Carbamoylphosphate synthetase I 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
CTC1	Cerebroretinal microangiopathy with calcifications and cysts
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13
CTNS	Cystinosis
CTSC	Haim-Munk syndrome Papillon-Lefevre syndrome Periodontitis 1, juvenile
CUBN	Megaloblastic anemia-1, Finnish type
CUL7	Three M syndrome 1 Yakut short stature syndrome
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYP1A2	CYP1A2-related drug metabolism
CYP1B1	Glaucoma, primary open angle, adult-onset Peters anomaly Glaucoma 3A, primary congenital
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP27A1	Cerebrotendinous xanthomatosis
CYP2A6	CYP2A6-related drug metabolism
CYP2B6	Efavirenz, poor metabolism of
CYP2D6	Drug metabolism, CYP2CD6-related
CYP4F2	Warfarin metabolism
CYP4V2	Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive
D2HGDH	D-2-hydroxyglutaric aciduria 1
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy, type C, 9
DBT	Maple syrup urine disease, type II
DCAF17	Woodhouse-Sakati syndrome
DCC	Mirror movements 1
DCDC2	Deafness, autosomal recessive 66
DCLRE1C	Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
DDC	Aromatic l-amino acid decarboxylase deficiency
DDOST	Congenital disorder of glycosylation, type Ir
DDX11	Warsaw breakage syndrome
DFNA5	Deafness, autosomal dominant 5
DGCR2	Schizophrenia
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DHDDS	Retinitis pigmentosa 59
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
DIS3L2	Perlman syndrome
DLAT	Pyruvate dehydrogenase E2 deficiency
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
DMGDH	Dimethylglycine dehydrogenase deficiency
DMPK	Myotonic dystrophy 1
DNAAF1	Ciliary dyskinesia, primary, 13
DNAAF2	Ciliary dyskinesia, primary, 10
DNAH11	Ciliary dyskinesia, primary, 7
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI2	Ciliary dyskinesia, primary, 9
DNAJC6	Juvenile Parkinsonism, autosomal recessive
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
DPY19L2	Spermatogenic failure 9 Globozoospermia
DPYD	5-fluorouracil toxicity
DSC3	Hypotrichosis and recurrent skin vesicles
DSG1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG4	Hypotrichosis 6
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST	Neuropathy, hereditary sensory and autonomic, type VI
DUOX2	Thyroid dyshormonogenesis 6
DUOXA2	Thyroid dyshormonogenesis 5
DYM	Dyggve-Melchior-Clausen disease Smith-McCort dysplasia 1
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly
DYX1C1	Ciliary dyskinesia, primary 25
EARS2	Combined oxidative phosphorylation deficiency 12
ECM1	Lipoid proteinosis
EDARADD	Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive
EDN3	Central hypoventilation syndrome, congenital Waardenburg syndrome, type 4B Hirschsprung disease, susceptibility to, 4
EFEMP2	Cutis laxa, autosomal recessive type IB
EFHC1	Epilepsy, myoclonic juvenile Epilepsy, juvenile absence, susceptibility to, 1 Epilepsy, severe intractable
EGF	Hypomagnesemia 4, renal
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
EGLN1	Erythrocytosis, familial, 3
EHMT1	Kleefstra syndrome
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
EIF2B5	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
EIF4G1	Parkinson disease 18 Macular dystrophy with central cone involvement
ELN	Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis
ELOVL4	Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3
EMG1	Bowen-Conradi syndrome
ENG	Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis syndrome
ENO3	Glycogen storage disease XIII
ENPP1	Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1
EP300	Rubinstein-Taybi syndrome 2
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital
EPHX1	Hypercholanemia, familial
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
ESRRB	Deafness, autosomal recessive 35
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
EVC2	Ellis-van Creveld syndrome Weyers acrodental dysostosis
EYA4	Cardiomyopathy, dilated, 1J
EYS	Retitinis pigmentosa 25
F12	Angioedema, hereditary, type III
F13A1	Factor XIIIA deficiency
F13B	Factor XIIIB deficiency
F5	Thrombophilia due to activated protein C resistance Factor V deficiency
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
FANCD2	Fanconi anemia, complementation group D2
FANCG	Fanconi anemia type G
FANCI	Fanconi anemia, complementation group I
FARS2	Combined oxidative phosphorylation deficiency 14
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
FCGR3A	Immunodeficiency 20
FCN3	Immunodeficiency due to Ficolin 3 deficiency
FGA	Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital Familial visceral amyloidosis
FGF23	Hypophosphatemic rickets, autosomal dominant Tumoral calcinosis, hyperphosphatemic
FGFR1	Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 Jackson-Weiss syndrome Pfeiffer syndrome
FIG4	Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome
FIGLA	Premature ovarian failure 6
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa
FLVCR2	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
FMN2	Mental retardation, autosomal recessive, 47
FMO3	Trimethylaminuria
FN1	Glomerulopathy with fibronectin deposits 2
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
FOXN1	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FRAS1	Fraser syndrome
FREM1	Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive
FREM2	Fraser syndrome
FRMD7	Nystagmus, infantile periodic alternating, X-linked
FSHR	Ovarian hyperstimulation syndrome Ovarian dysgenesis 1
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
GABRG2	Dravet syndrome Generalized epilepsy with febrile seizures plus, type 3 Familial febrile seizures 8 Epilepsy, childhood absence, susceptibility to, 2
GALC	Krabbe disease
GALNS	Mucopolysaccharidosis IVA (Morquio syndrome A)
GALNT12	Colorectal cancer, susceptibility to, 1
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
GATM	Cerebral creatine deficiency syndrome 3
GBE1	Glycogen storage disease IV
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GCSH	Glycine encephalopathy
GDF3	Microphthalmia, isolated 7 Microphthalmia, isolated, with coloboma 6 Klippel-Feil syndrome 3, autosomal dominant Coloboma, ocular
GDF5	Brachydactyly, type A2 Acromesomelic dysplasia, Hunter-Thompson type Fibular hypoplasia and complex brachydactyly Multiple synostoses syndrome 2 Chondrodysplasia, Grebe type Symphalangism, proximal 1B Brachydactyly, type A1 Brachydactyly, type A1, C Brachydactyly, type C
GFAP	Alexander disease
GGCX	Vitamin K-dependent clotting factors, combined deficiency of, 1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GHR	Growth hormone insensitivity syndrome (Laron syndrome)
GJA3	Cataract 14, multiple types
GJB2	Deafness, autosomal recessive 1A Deafness, digenic Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3A Bart-Pumphrey syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Keratitis-icthyosis-deafness syndrome
GJB4	Erythrokeratodermia variabilis et progressiva Erythrokeratodermia variabilis with erythema gyratum repens
GJC2	Lymphedema, hereditary, IC Spastic paraplegia 44, autosomal recessive Leukodystrophy, hypomyelinating, 2
GLB1	Mucopolysaccharidosis type IVB (Morquio syndrome B) GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III
GLE1	Arthrogryposis, lethal, with anterior horn cell disease Lethal congenital contracture syndrome 1
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
GORAB	Geroderma osteodysplasticum
GP1BA	Bernard-Soulier syndrome, type A2 Bernard-Soulier syndrome, type A1 Pseudo-von Willebrand disease
GP6	Bleeding disorder, platelet-type, 11
GP9	Bernard-Soulier syndrome
GPC3	Simpson-Golabi-Behmel syndrome, type 1
GPC6	Omodysplasia 1
GPIHBP1	Hyperlipoproteinemia, type ID
GPSM2	Chudley-McCullough syndrome Deafness, autosomal recessive 82
GRIP1	Fraser syndrome
GRM6	Night blindness, congenital stationary, type 1B
GSN	Amyloidosis, Finnish type
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
GYPB	Blood group, Ss
GYS2	Glycogen storage disease, type 0, liver
H6PD	Cortisone reductase deficiency
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4
HADHB	Trifunctional protein deficiency
HAL	Histidinemia
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2A
HERC2	Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38
HEXA	Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency
HEXB	Sandhoff disease
HGD	Alkaptonuria
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HMCN1	Macular degeneration, age-related, 1
HMGCR	Statins, efficacy of
HNF1A	Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III
HNF1B	Renal cell carcinoma, nonpapillary chromophobe
HNMT	Mental retardation, autosomal recessive 51
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
HOXA13	Hand-foot-genital syndrome Guttmacher syndrome Hand-foot-uterus syndrome
HPD	Tyrosinemia, type III Hawksinuria
HPS1	Hermansky-Pudlak syndrome 1
HPS4	Hermansky-Pudlak syndrome 4
HPSE2	Ochoa syndrome Urofacial syndrome 1
HR	Hypotrichosis 4 Atrichia with papular lesions Alopecia universalis congenita
HRG	Thrombophilia due to histidine-rich glycoprotein deficiency
HSD17B4	Perrault syndrome
HSD3B7	Bile acid synthesis defect, congenital, 1
HSPA1L	Abacavir, susceptibility to toxicity with
HSPG2	Schwartz-Jampel syndrome, type 1
HTT	Huntington disease
HYLS1	Hydrolethalus syndrome
IDUA	Mucopolysaccharidosis type I
IFIH1	Singleton-Merten syndrome 1
IFITM5	Osteogenesis imperfecta, type V
IFNAR2	Immunodeficiency 45
IFT80	Short-rib thoracic dysplasia 2 with or without polydactyly
IGFALS	Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
IGHM	Agammaglobulinemia 1
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
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
IRF6	Popliteal pterygium syndrome van der Woude syndrome 1 Orofacial cleft 6
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
JPH2	Cardiomyopathy, familial hypertrophic 17
JPH3	Huntington disease-like 2
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
KANK1	Cerebral palsy, spastic quadriplegic, 2
KANSL1	Koolen-de Vries syndrom
KARS	Charcot-Marie-Tooth disease, recessive intermediate B
KAT6B	Ohdo syndrome, SBBYS variant Genitopatellar syndrome
KBTBD13	Nemaline myopathy 6
KCNC3	Spinocerebellar ataxia 13
KCNE1	Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2
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
KCNK18	Migraine, with or without aura, susceptibility to, 13
KCNQ1	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome 2 Atrial fibrillation, familial 3
KCNQ2	Epileptic encephalopathy, early infantile, 7 Benign familial neonatal seizures, 1 Myokymia
KCNQ4	Deafness, autosomal dominant 2A
KEL	Blood group, Kell system
KIAA1033	Mental retardation, autosomal recessive 43
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
KISS1	Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia
KIT	Gastrointestinal stromal tumor
KL	Tumoral calcinosis, hyperphosphatemic
KLF1	Anemia, dyserythropoietic congenital, type IV Blood group, Lutheran inhibitor
KLK4	Amelogenesis imperfecta, type IIA1
KLKB1	Prekallikrein deficiency
KNG1	High molecular weight kininogen deficiency
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
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
KRT2	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa
KRT3	Meesmann corneal dystrophy
KRT5	Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex with migratory circinate erythema Epidermolysis bullosa simplex with mottled pigmentation Dowling-Degos disease 1
KRT6A	Pachyonychia congenita 3
KRT74	Ectodermal dysplasia 7, hair/nail type Hypotrichosis 3 Woolly hair, autosomal dominant
KRT75	Pseudofolliculitis barbae
KRT81	Monilethrix
KRT83	Monilethrix
KRT86	Monilethrix
L2HGDH	L-2-hydroxyglutaric aciduria
LAMA1	Poretti-Boltshauser syndrome
LAMA2	Schizophrenia Muscular dystrophy, congenital merosin-deficient, 1A
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LAMA4	Cardiomyopathy, dilated, 1JJ
LAMB1	Lissencephaly 5
LAMB3	Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, Herlitz type Amelogenesis imperfecta, type IA
LAMC3	Cortical malformations, occipital
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
LHX4	Pituitary hormone deficiency, combined, 4
LIFR	Stuve-Wiedemann syndrome
LIPC	Hepatic lipase deficiency
LIPE	Abdominal obesity-metabolic syndrome 4
LIPI	Hypertriglyceridemia, familial
LMAN1	Combined factor V and VIII deficiency
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type
LMF1	Combined lipase deficiency
LOR	Vohwinkel syndrome, variant form
LOXHD1	Deafness, autosomal recessive 77
LPA	Lipoprotein A deficiency, congenital
LPIN1	Myoglobinuria, acute, recurrent, autosomal recessive
LRP1	Schizophrenia
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
LRP4	Cenani-Lenz syndactyly syndrome Myasthenic syndrome, congenital 17 Sclerosteosis 2
LRP5	van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome
LRRC6	Ciliary dyskinesia, primary 19
LRRK2	Parkinson disease 8 Dementia, Lewy body
LRSAM1	Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1	Mental retardation, autosomal recessive 15
MAN2B1	Mannosidosis, alpha B, lysosomal
MANBA	Mannosidosis, beta A, lysosomal
MAP3K1	46,XY sex reversal 6
MASP2	MASP2 deficiency
MASTL	Thrombocytopenia 2
MC1R	Increased analgesia from kappa-opioid receptor agonist, female specific
MC4R	Obesity, autosomal dominant
MCEE	Methylmalonyl-CoA epimerase deficiency
MCM4	Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1	Microcephaly, primary autosomal recessive, 1
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
MKKS	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6
MLH3	Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma
MMAB	Methylmalonic acidemia, cblB type
MMP14	Winchester syndrome
MMP20	Amelogenesis imperfecta, hypomaturation type, IIA2
MMP9	Metaphyseal anadysplasia 2
MNX1	Currarino syndrome
MOG	Narcolepsy 7
MOGS	Congenital disorder of glycosylation, type IIb
MPDZ	Hydrocephalus, nonsyndromic, autosomal recessive 2
MRPL3	Combined oxidative phosphorylation deficiency 9
MSH3	Endometrial carcinoma
MSR1	Barrett esophagus/esophageal adenocarcinoma Prostate cancer
MSX2	Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1
MTHFD1	Severe combined immunodeficiency
MTHFR	Homocystinuria due to MTHFR deficiency
MTR	Methylmalonic acidemia, cblG type
MTRR	Homocystinuria-megaloblastic anemia, cobalamin E type
MTTP	Abetalipoproteinemia
MUT	Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
MYBPC1	Arthrogryposis, distal, type 1B Lethal congenital contractural syndrome 4
MYH11	Aortic aneurysm, familial thoracic 4
MYH14	Deafness, autosomal dominant 4B Deafness, autosomal dominant 4 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYH6	Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14
MYH8	Carney complex variant Arthrogryposis, distal, type 7 Trismus-pseudocamptodactyly syndrome
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYLK	Aortic aneurysm, familial thoracic 7
MYO15A	Deafness, autosomal recessive 3
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
MYO1A	Deafness, autosomal dominant 48
MYO1E	Focal segmental glomerulosclerosis 6
MYO3A	Deafness, autosomal recessive 30
MYO5A	Griscelli syndrome, type 1
MYO5B	Diarrhea 2, with microvillus atrophy
MYO7A	Deafness, autosomal recessive 2 Usher syndrome, type 1B
MYOC	Glaucoma, primary open angle
MYOT	Myopathy, myofibrillar, 3
MYPN	Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS	N-acetylglutamate synthase deficiency
NARS2	Combined oxidative phosphorylation deficiency 24
NAT2	Acetylation, NAT2-related
NBEAL2	Gray platelet syndrome
NBN	Breast cancer, susceptibility to Nijmegen breakage syndrome
NCF1	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NDUFS3	Leigh syndrome Mitochondrial complex I deficiency
NDUFS7	Leigh syndrome Mitochondrial complex I deficiency
NDUFV2	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
NFKB1	Immunodeficiency, common variable, 12
NFU1	Multiple mitochondrial dysfunctions syndrome 1
NGF	Neuropathy, hereditary sensory and autonomic, type V
NLRP1	Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NME8	Ciliary dyskinesia, primary, 6
NOBOX	Premature ovarian failure 5
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
NPPA	Atrial fibrillation, familial, 6 Atrial standstill 2
NR3C2	Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
NRIP1	Schizophrenia
NSD1	Beckwith-Wiedemann syndrome Weaver syndrome Sotos syndrome
NT5E	Calcification of joints and arteries
NTRK1	Insensitivity to pain, congenital, with anhidrosis
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
OSMR	Amyloidosis, primary localized cutaneous, 1
OTOA	Deafness, autosomal recessive 22
OTOF	Deafness, autosomal recessive 9 Neuropathy, autosomal recessive, 1
PANK2	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Neurodegeneration with brain iron accumulation 1
PARK2	Parkinson disease 2, autosomal recessive juvenile
PAX4	Diabetes mellitus
PCCA	Propionic acidemia
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
PCSK9	Hypercholesterolemia, familial, 3
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PDE6B	Night blindness, congenital stationary, autosomal dominant 2 Retinitis pigmentosa 40
PDE6C	Cone dystrophy 4
PDHB	Pyruvate dehydrogensae E1-beta deficiency
PER2	Advanced sleep phase syndrome, familial
PER3	Advanced sleep phase syndrome, familial, 3
PEX14	Zellweger syndrome Peroxisome biogenesis factor disorder 14
PEX16	Peroxisome biogenesis factor disorder 16
PEX2	Peroxisome biogenesis disorder 5A Peroxisome biogenesis disorder 5B
PFKM	Glycogen storage disease VII
PGM1	Congenital disorder of glycosylation, type It
PHOX2B	Central hypoventilation syndrome, congenital Neuroblastoma with Hirschsprung disease Neuroblastoma, susceptiblity to, 2
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIK3CA	Cowden syndrome 5
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIKFYVE	Corneal fleck dystrophy
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PKD1	Polycystic kidney disease, adult type I
PKHD1	Polycystic kidney disease, autosomal recessive
PKP1	Ectodermal dysplasia/skin fragility syndrome
PLA2G4A	Phospholipase A2, group IV A, deficiency of
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PLAU	Quebec platelet disorder
PLCE1	Nephrotic syndrome, type 3
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
PLIN1	Lipodystrophy, familial partial, type 4
PLOD1	Ehlers-Danlos syndrome type VI
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
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
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PON1	Clopidogrel treatment, sensitivity to
POR	Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POU3F4	Deafness, X-linked 2
PPARG	Lipodystrophy, familial, partial, type 3 Insulin resistance, severe, digenic
PPP1R3A	Insulin resistance, severe, digenic
PRKAG3	Increased glyogen content in skeletal muscle
PRKDC	Immunodeficiency 26 with or without neurologic abnormalities
PRKRA	Dystonia 16
PRODH	Hyperprolinemia, type I
PROP1	Pituitary hormone deficiency, combined, 2
PRPH2	Retinitis punctata albescens Choriodal dystrophy, central areolar 2 Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7
PRRT2	Episodic kinesigenic dyskinesia 1
PRSS1	Pancreatitis, hereditary
PRSS12	Mental retardation, autosomal recessive 1
PRSS56	Microphthalmia, isolated 6
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
PSMB8	Nakajo-Nishimura syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
PSMC3IP	Ovarian dysgenesis 3
PSPH	Phosphoserine phosphatase deficiency
PTCH1	Basal cell nevus syndrome
PTF1A	Pancreatic and cerebellar agenesis Pancreatic agenesis 2
PTPRQ	Deafness, autosomal recessive 84
RAB23	Carpenter syndrome 1
RAB3GAP1	Warburg micro syndrome 1
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
RAX	Microphthalmia, isolated 3
RB1CC1	Schizophrenia
RBM20	Cardiomyopathy, dilated, 1DD
RBP3	Retinitis pigmentosa 66
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
RELN	Epilepsy, familial temporal lobe, 7 Lissencephaly 2
RFXANK	MHC class II deficiency
RHBDF2	Tylosis with esophageal cancer
RHCE	Rhesus blood group
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis
RIPK4	Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome
RNASEL	Prostate cancer, hereditary, 1
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
RPE65	Retinitis pigmentosa 20 Leber congenital amaurosis 2
RPGR	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
RPGRIP1L	COACH syndrome Meckel syndrome 5 Joubert syndrome 7 Retinal degeneration in ciliopathy, modifier of
RPS17	Diamond-Blackfan anemia 4
RSPH4A	Ciliary dyskinesia, primary, 11
RXFP2	Cryptorchidism
RYR1	Malignant hyperthermia, susceptibility 1 Central core disease Minicore myopathy Multicore myopathy Minicore myopathy with external ophthalmoplegia Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
SAG	Retinitis pigmentosa 47 Oguchi disease 1
SALL1	Townes-Brocks syndrome
SALL4	Duane-radial ray/Okohiro syndrome Acro-Renal-Ocular syndrome
SART3	Porokeratosis, disseminated superficial actinic, 1
SCARF2	Van den Ende-Gupta syndrome
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
SCN9A	Paroxysmal extreme pain disorder
SCNN1A	Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 2
SCO1	Mitochondrial complex IV deficiency
SDCCAG8	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7
SDHAF1	Mitochondrial complex II deficiency
SEC23A	Craniolenticulosutural dysplasia
SEC23B	Cowden syndrome 7 Anemia, dyserythropoietic congenital, type II
SEMA3E	CHARGE syndrome
SEPN1	Muscular dystrophy, rigid spine, 1 Myopathy, congenital, with fiber-type disproportion
SEPT9	Amyotrophy, hereditary neuralgic
SERPINA1	Alpha-1-Antitrypsin deficiency
SERPINA6	Corticosteroid-binding globulin deficiency
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
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
SIGMAR1	Amyotrophic lateral sclerosis 16, juvenile Frontotemporal lobar degeneration-motor neuron disease Spinal muscular atrophy, distal, autosomal recessive, 2
SIX5	Branchiootorenal syndrome 2
SIX6	Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy
SKIV2L	Trichohepatoenteric syndrome 2
SLC10A2	Bile acid malabsorption, primary
SLC11A2	Anemia, hypochromic microcytic, with iron overload
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)
SLC16A12	Cataract, juvenile, with microcornea and glucosuria
SLC16A2	Allan-Herndon-Dudley syndrome
SLC24A1	Night blindness, congenital stationary, type 1D
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19	Thiamine metabolism dysfunction syndrome 4 Microcephaly, Amish type
SLC26A2	Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SLC2A9	Hypouricemia, renal, 2
SLC34A2	Pulmonary alveolar microlithiasis
SLC34A3	Hypophosphatemic rickets with hypercalciuria, hereditary
SLC35C1	Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type II
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC39A13	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC39A4	Acrodermatitis enteropathica
SLC3A1	Cystinuria
SLC45A2	Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5
SLC4A11	Cryohydrocytosis
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SLC52A1	Maternal riboflavin deficiency
SLC5A7	Neuronopathy, distal hereditary motor, type VIIA
SLC6A5	Hyperekplexia 3
SLC7A9	Cystinuria
SLCO1B1	Statin-induced myopathy Hyperbilirubinemia, Rotor type, digenic
SLCO1B3	Hyperbilirubinemia, Rotor type, digenic
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Primary hypertrophic osteoarthropathy
SMARCA2	Nicolaides-Baraitser syndrome
SMARCAD1	Adermatoglyphia
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
SPATA16	Spermatogenic failure 6
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
SPINK5	Netherton syndrome
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
SPTB	Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic
SPTBN2	Spinocerebellar ataxia 5, autosomal dominant Spinocerebellar ataxia 14, autosomal recessive
SRD5A3	Kahrizi syndrome Congenital disorder of glycosylation, type Iq
SSTR5	Resistance to somatostatin treatment
STEAP3	Hypochromic microcytic anemia with iron overload 2
STIL	Microcephaly, primary autosomal recessive, 7
STRA6	Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8
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
T	Chordoma
TAC3	Hypogonadotropic hypogonadism
TAF2	Mental retardation, autosomal recessive 40
TAP2	Bare lymphocyte syndrome, type I
TAPBP	Bare lymphocyte syndrome, type I
TAS2R38	Thiourea tasting Phenylthiocarbamide tasting
TBC1D4	Diabetes mellitus, noninsulin-dependent 5
TBX1	Tetralogy of Fallot Conotruncal anomaly face syndrome
TBX15	Cousin syndrome
TBX4	Small patella syndrome
TBXAS1	Ghosal hematodiaphyseal syndrome
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TCN2	Transcobalamin II deficiency
TDGF1	Forebrain anomalies Congenital cardiac malformations
TDRD7	Cataract, autosomal recessive congenital 4
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
TGM1	Ichthyosis, congenital, autosomal recessive 1
TGM6	Spinocerebellar ataxia 35
TH	Segawa syndrome, autosomal recessive
THBD	Thrombophilia due to thrombomodulin defect Hemolytic uremic syndrome, atypical, susceptibility to, 6
TJP2	Hypercholanemia, familial Cholestasis, progressive familial intrahepatic 4
TLL1	Atrial septal defect 6
TMC6	Epidermodysplasia verruciformis
TMC8	Epidermodysplasia verruciformis
TMEM173	STING-associated vasculopathy, infantile-onsent (SAVI)
TMEM216	Joubert syndrome 2 Meckel syndrome 2
TMEM43	Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7
TMEM67	COACH syndrome Nephronophthisis 11 Meckel syndrome 3 Joubert syndrome 6
TMPRSS15	Enterokinase deficiency
TMPRSS3	Deafness, autosomal recessive 10 Deafness, autosomal recessive 8
TMPRSS6	Iron-refractory iron deficiency anemia
TNC	Deafness, autosomal dominant 56
TNFRSF10B	Squamous cell carcinoma, head and neck
TNFRSF11A	Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7
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
TRAF3IP2	Candidiasis, familial 8
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TRIOBP	Deafness, autosomal recessive 28
TRIP11	Achondrogenesis, type IA
TRPA1	Episodic pain syndrome, familial
TRPM1	Night blindness, congenital stationary, type 1C
TRPM6	Hypomagnesemia 1, intestinal
TRPV3	Olmsted syndrome Palmoplantar keratoderma, nonepidermolytic focal 2
TRPV4	Spinal muscular atrophy, distal, congenital nonprogressive Brachyolmia type 3 Metatropic dysplasia Spondyloepiphyseal dysplasia, Maroteaux type Scapuloperoneal spinal muscular atrophy Hereditary motor and sensory neuropathy, type Iic Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Digital arthropathy-brachydactyly, familial
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
TSHZ1	Aural atresia, congenital
TSPYL1	46, XY disorder of sex development Sudden infant death with dysgenesis of the testes syndrome
TTBK2	Spinocerebellar ataxia 11
TTC21B	Nephronophthisis 12 Short-rib thoracic dysplasia 4 with or without polydactyly
TTC37	Trichohepatoenteric syndrome 1
TTI2	Mental retardation, autosomal recessive 39
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
TYK2	Immunodeficiency 35
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UBA1	Spinal muscular atrophy, X-linked 2, infantile
UNC13D	Hemophagocytic lymphohistiocytosis, familial 3
UPB1	Beta-ureidopropionase deficiency
UPK3A	Renal/urogenital adysplasia
USH2A	Usher syndrome, type 2A
UVSSA	UV-sensitive syndrome 3
VANGL1	Caudal regression syndrome Neural tube defects
VCAN	Wagner syndrome 1
VDR	Vitamin D-dependent rickets, type 2A
VPS13B	Cohen syndrome
VWF	von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3
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
WISP3	Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood
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
XPC	Xeroderma pigmentosum, group C
ZBTB18	Mental retardation, autosomal dominant 22
ZFP57	Diabetes mellitus, transient neonatal, 1
ZFPM2	46,XY sex reversal 9
ZFYVE26	Spastic paraplegia 15
ZFYVE27	Spastic paraplegia 33, autosomal dominant
ZNF335	Microcephaly 10, primary, autosomal recessive
ZNF469	Brittle cornea syndrome 1
ZNF674	Mental retardation, X-linked 92

Genes at HGMD

Summary

Number of Variants: 3325
Number of Genes: 1671

Export to: CSV

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A2M
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	12	rs226405 dbSNP Clinvar	9248233	2532.04	T	C	PASS	1/1	73	NON_SYNONYMOUS_CODING	MODERATE	None	0.99780	0.99780	0.00235	0.91	0.00		None None	None None None None	A2M\|0.10920489\|49.36%
A4GALT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	22	rs11541159 dbSNP Clinvar	43089849	1089.08	T	C	PASS	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None	0.35064	0.35060	0.40440	0.26	0.00		None None	None None None None	A4GALT\|0.02220674\|73.08%
AADAC
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	3	rs1803155 dbSNP Clinvar	151545601	288.71	G	A	PASS	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None	0.73443	0.73440	0.22189	0.04	0.16		None None	None None None None	AADAC\|0.00221398\|90.39%
AADACL2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	3	rs1972977 dbSNP Clinvar	151463421	1616.84	G	T	PASS	1/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.70667	0.70670	0.30183	1.00	0.00		None None	None None None None	AADACL2\|0.001976057\|91.06%
AARS2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	6	rs324136 dbSNP Clinvar	44275011	3499.85	T	C	PASS	1/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	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
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	16	rs1731017 dbSNP Clinvar	8839954	1725.61	A	G	PASS	1/1	57	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.50080	0.50080	0.48599	0.61	0.00		None None	None None None None	ABAT\|0.163825558\|41.04%
ABCA1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	9	rs2230808 dbSNP Clinvar	107562804	708.68	T	C	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.53834	0.53830	0.41496	0.61	0.09		None None	None None None None	ABCA1\|0.668333708\|9.43%
	View	ngs049p_s3	9	rs2230806 dbSNP Clinvar	107620867	544.67	C	T	PASS	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None	0.43970	0.43970	0.39151	0.66	0.00		None None	None None None None	ABCA1\|0.668333708\|9.43%
	View	ngs049p_s3	9	rs2066715 dbSNP Clinvar	107588033	987.48	C	T	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.11322	0.11320	0.04721	1.00	0.00		None None	None None None None	ABCA1\|0.668333708\|9.43%
	View	ngs049p_s3	9	rs2066714 dbSNP Clinvar	107586753	637.31	T	C	PASS	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None	0.35683	0.35680	0.24596	0.28	0.00		None None	None None None None	ABCA1\|0.668333708\|9.43%
ABCA10
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	ngs049p_s3	17	rs4968849 dbSNP Clinvar	67178316	605.2	A	G	PASS	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.71126	0.71130	0.24304	1.00	0.00		None None	None None None None	ABCA10\|0.002179826\|90.49%
	View	ngs049p_s3	17	rs9909216 dbSNP Clinvar	67212423	1132.19	G	A	PASS	0/1	64	NON_SYNONYMOUS_CODING	MODERATE	None	0.58067	0.58070	0.34515	0.03	0.03		None None	None None None None	ABCA10\|0.002179826\|90.49%
	View	ngs049p_s3	17	rs11657804 dbSNP Clinvar	67210992	340.81	T	C	PASS	0/1	33	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.26158	0.26160	0.29885	0.30	0.16		None None	None None None None	ABCA10\|0.002179826\|90.49%
ABCA12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score