SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

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

Genes:
A3GALT2, A4GALT, AADACL4, AATK, ABCA10, ABCA3, ABCA7, ABCB8, ABCC5, ABCC8, ABCG4, AC025278.1, AC026703.1, AC079354.1, AC079612.1, AC105020.1, AC135178.1, ACAD11, ACADS, ACAP1, ACER1, ACER2, ACO1, ACP1, ACSBG1, ACSM2A, ACTC1, ACTN1, ACVRL1, ADAM15, ADAM17, ADAM33, ADAMTS12, ADAMTS16, ADAMTS3, ADAMTS6, ADAMTSL1, ADAMTSL3, ADAMTSL5, ADCY2, ADCYAP1, ADIG, ADIPOR1, ADTRP, AEBP1, AFF1, AGFG2, AGPS, AGRN, AGXT, AGXT2, AHNAK, AHRR, AK8, AKAP5, AKAP8, AKR1A1, AL031666.2, AL033381.1, AL049840.1, ALAS1, ALDH16A1, ALDH1B1, ALDH5A1, ALG3, ALKBH2, ALOX15, ALOX15B, ALOXE3, ALPL, AMACR, AMER3, AMPD3, ANAPC1, ANGPTL4, ANKDD1A, ANKFY1, ANKH, ANKIB1, ANKRD18A, ANKRD18B, ANKRD24, ANKRD30B, ANKRD33B, ANKRD52, ANKRD62, ANKRD9, ANKS4B, ANO9, ANXA2R, AP1G2, AP1S1, AP2A2, AP4E1, AP5B1, APBA3, APEH, APIP, APOBEC3B, APPBP2, APPL1, AQP7, ARFGAP1, ARFGAP3, ARFRP1, ARHGAP11B, ARHGEF16, ARHGEF18, ARHGEF39, ARID3A, ARID3C, ARID5A, ARL4D, ARMC5, ARNTL, ARPC1B, ARRDC5, ARVCF, ASB14, ASGR1, ASGR2, ASIC3, ASPA, ASPDH, ASPM, ATAD3A, ATF6B, ATF7IP2, ATHL1, ATM, ATMIN, ATP11A, ATP1B2, ATP2A1, ATP4A, ATP5I, ATP5J2-PTCD1, ATP6V1G2-DDX39B, ATP8B2, ATP8B3, ATP8B4, ATRN, ATXN1, ATXN2L, AXIN2, AZU1, B4GALNT4, BAG1, BAI1, BAIAP3, BASP1, BAZ1B, BAZ2A, BCAM, BCL10, BCL7A, BECN1, BEST1, BGLAP, BIRC8, BMP6, BOD1L1, BRD7, BRD9, BRPF1, BSN, BST1, BTAF1, BTBD2, BTD, BTN1A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, C11orf24, C11orf35, C12orf42, C12orf49, C15orf59, C16orf3, C16orf62, C16orf71, C17orf64, C18orf56, C19orf59, C19orf77, C1orf213, C1orf85, C20orf96, C2CD4C, C2CD5, C2orf57, C3, C4A, C4orf19, C4orf21, C4orf36, C5orf22, C5orf34, C5orf38, C6, C6orf10, C6orf195, C6orf201, C6orf222, C6orf25, C7, C7orf60, C9, C9orf24, C9orf38, C9orf66, C9orf72, CA11, CA9, CACNA1E, CACNA1H, CACNA1S, CACNA2D4, CACNG6, CACTIN, CAD, CADPS2, CAGE1, CALM1, CAMK1G, CAMKV, CAMSAP3, CAMTA1, CAPN11, CAPN13, CAPSL, CAPZB, CARD10, CARD6, CASKIN1, CBLN2, CC2D2A, CCBL1, CCDC107, CCDC120, CCDC136, CCDC14, CCDC152, CCDC154, CCDC182, CCDC33, CCDC38, CCDC73, CCDC78, CCDC88B, CCDC94, CCDC96, CCHCR1, CCIN, CCL24, CCRL2, CCS, CCT3, CD151, CD27, CD2AP, CD2BP2, CD37, CD81, CDC7, CDCP2, CDH10, CDH12, CDH16, CDH18, CDH6, CDH9, CDK11A, CDK12, CDK2, CDKAL1, CDYL, CECR1, CECR5, CECR6, CEL, CELF5, CELSR3, CEP104, CEP192, CEP72, CER1, CERCAM, CERS1, CERS2, CES1, CES2, CETN1, CFHR5, CHAD, CHD3, CHID1, CHRD, CHRM5, CHRNA3, CHRNB4, CHST10, CHST3, CHSY1, CHTOP, CIDEA, CILP, CILP2, CKB, CLC, CLCN7, CLEC17A, CLIC1, CLIC6, CLK4, CLMN, CLOCK, CLPB, CLPTM1L, CLSTN3, CMBL, CMYA5, CNGB1, CNN2, CNOT4, CNTD1, CNTD2, CNTN4, CNTNAP3, CNTROB, COG7, COL12A1, COL4A3BP, COL6A3, COL6A5, COMP, COPS7B, CORO1C, CPEB2, CPNE5, CPXM1, CPZ, CRABP2, CRELD2, CRIM1, CRLF3, CROCC, CRYBG3, CSMD1, CSNK1D, CSNK1G2, CST6, CTC1, CTD-2368P22.1, CTD-3193O13.9, CTNNBIP1, CTNND2, CUBN, CXCL16, CYBA, CYFIP1, CYP2W1, CYP4F12, CYP4F22, CYTH1, CYTH4, DAB2, DAGLA, DAPK3, DARS2, DAXX, DBP, DCAF12, DCAF6, DCDC2, DCHS1, DCLK2, DDX39B, DEAF1, DENND1C, DENND4C, DEPDC5, DESI1, DESI2, DGKE, DHRS4, DHTKD1, DHX16, DHX34, DHX8, DIAPH1, DKFZP434E1119, DLG1, DLGAP2, DLX2, DLX4, DMRT1, DMRT2, DMRT3, DMRTA1, DMRTC2, DNA2, DNAH1, DNAH11, DNAH12, DNAH14, DNAH2, DNAH3, DNAH5, DNAH7, DNAH8, DNAI1, DNAJA1, DNAJC1, DNHD1, DNMT1, DOCK8, DOHH, DPCR1, DPM2, DPY19L3, DROSHA, DSCAML1, DSN1, DSP, DTNA, DTNBP1, DUSP22, DUSP28, DUSP3, DUSP8, DYNC1H1, DYRK1A, E2F3, EBI3, EED, EEF2, EEFSEC, EFCAB12, EFCAB4A, EGFLAM, EGR4, EHBP1L1, EIF2AK3, EIF3B, EIF4G1, ELANE, ELFN2, ELOVL5, EMC4, EMILIN2, EML6, EMR1, EMR3, ENDOV, ENTPD4, EP300, EPHA2, EPS8L1, EPS8L2, EQTN, ERCC6, ERMAP, ERMP1, ERN2, ESCO2, ESYT3, ETV7, EVI5L, EXD1, EXOC3, EXOC3L4, EXOSC3, EXOSC7, EYS, F13A1, F13B, F2, F2RL3, FAIM2, FAM115C, FAM134B, FAM154A, FAM161B, FAM166B, FAM173B, FAM178A, FAM183A, FAM193B, FAM194B, FAM200B, FAM205A, FAM206A, FAM208A, FAM20C, FAM210A, FAM214B, FAM230A, FAM24A, FAM53A, FAM65B, FAM71F2, FAM89B, FAN1, FANCD2OS, FANCE, FARS2, FASN, FASTKD3, FBN1, FBXL18, FBXO10, FBXO18, FBXO24, FBXO42, FBXO45, FBXW10, FBXW12, FCGBP, FCGR3A, FCGR3B, FCHSD2, FCRL1, FEM1A, FER1L6, FERMT3, FGD2, FGR, FHAD1, FHOD1, FIBP, FICD, FILIP1, FKBP4, FKBPL, FLII, FLJ00273, FLNC, FLT3LG, FNDC5, FNDC7, FOCAD, FOLR1, FOXA3, FOXC1, FOXD4, FOXN3, FOXO1, FOXQ1, FREM1, FRMPD1, FRMPD4, FSD1, FSIP2, FSTL3, FUT3, FUT5, FXR2, FYB, GABARAPL1, GAGE12F, GAGE12H, GAL3ST4, GALR3, GARS, GAS8, GATM, GBA2, GBF1, GCM2, GGT5, GGTLC3, GHR, GHRL, GIPC3, GLB1L3, GLDC, GLI4, GLYR1, GMIP, GNA15, GNAL, GNAO1, GOLGA4, GOLGA6L4, GORASP1, GPAT2, GPHN, GPLD1, GPR107, GPR108, GPR116, GPR125, GPR179, GPR25, GPR56, GPR78, GPR89C, GPR98, GPX4, GPX8, GRAMD1A, GRB14, GRIK4, GRIN3B, GRK1, GRK6, GSAP, GSTP1, GUCY2C, GUK1, HAUS5, HAUS6, HBD, HCG27, HCN2, HDGFL1, HDGFRP2, HDLBP, HEATR1, HEATR4, HECTD2, HEG1, HELZ2, HERC1, HES2, HFE, HHIPL1, HIF3A, HIST1H1C, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2BA, HIST1H3C, HIST1H4B, HIST1H4C, HIST1H4E, HIST1H4H, HIVEP1, HMCN1, HMGCS1, HMHA1, HNRNPLL, HNRNPUL1, HOOK2, HP, HPCA, HPN, HPR, HRAS, HS3ST6, HSCB, HSD17B6, HSP90AB1, HSPA1A, HTR5A, HTR7, HUWE1, HYAL1, IBA57, IDE, IDH3B, IER3, IFNA1, IFNA4, IFNL3, IFT74, IGFBPL1, IGSF10, IGSF22, IKZF4, IL17C, IL17RA, IL17REL, IL1B, IL2RA, IL33, IL7R, ILF2, ILK, INO80, INSR, IPP, IQGAP1, IRAK2, IRF2BP1, IRF6, IRX2, ITFG2, ITGAD, ITGAE, ITGAX, ITGB4, ITIH1, ITIH3, JAGN1, JAK3, JARID2, JMJD4, JMJD8, JSRP1, JUND, KANK1, KAT8, KCNAB2, KCNC3, KCNH3, KCNH5, KCNK6, KCNQ5, KDM1B, KDM4B, KDM4C, KDM5B, KDM8, KDR, KIAA0020, KIAA0319, KIAA0430, KIAA0556, KIAA0922, KIAA1161, KIAA1279, KIAA1324, KIAA1432, KIAA1467, KIAA1549, KIF13A, KIF18A, KIF1B, KIF22, KIF24, KIF6, KIT, KLB, KLF11, KLF16, KLK1, KLK11, KLK15, KLK2, KLK7, KMT2A, KREMEN2, KRT13, KRT2, KRT23, KRT35, KRT8, KRT82, KRT9, KRTAP10-4, KRTAP10-5, KRTAP3-1, LAG3, LAMA1, LAMA2, LAMB1, LATS1, LCAT, LCE1E, LCN2, LDHD, LDLR, LIFR, LILRA2, LILRA3, LILRA4, LILRB1, LIMK2, LINGO3, LLGL1, LMBRD2, LMNB2, LMO2, LPAR5, LPCAT1, LPPR3, LRFN4, LRP1, LRP10, LRPAP1, LRRC14B, LRRC16A, LRRC37A, LRRC56, LRRC8E, LRRC9, LSR, LTA, LTB, LTBP4, LTBR, LUC7L2, LURAP1L, LY6D, LY6G5B, LY6G5C, LY6G6C, LYVE1, MACF1, MAD1L1, MADCAM1, MAK, MALRD1, MAN2C1, MAP4K1, MAP4K4, MAPK8, MARCH11, MARK1, MAST3, MBD3L2, MBD3L3, MC5R, MCF2L, MCIDAS, MCM7, MCMBP, MDM1, MED16, MED29, MEGF6, MEGF9, MEI1, MELK, METRN, METTL12, METTL22, MFSD10, MFSD11, MFSD12, MFSD6, MGAM, MGAT2, MGAT5B, MICALL2, MINK1, MISP, MKNK2, MLLT4, MLTK, MNT, MOCOS, MOGAT2, MORC2, MOXD1, MPND, MPP3, MPP6, MPPE1, MPRIP, MROH2B, MRPL54, MRPS12, MRPS21, MRPS26, MS4A4A, MSLN, MST1, MST1R, MTAP, MTRR, MUC13, MUC17, MUC2, MUC21, MUC5B, MUC6, MUM1, MVD, MYBBP1A, MYBPC3, MYO10, MYO9A, MYO9B, MYOM1, MYPN, NADK2, NANOGNB, NAPA, NARFL, NAV1, NBAS, NCAPD2, NCOR1, NCR3, NCR3LG1, NDEL1, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NDUFV3, NEDD9, NELL2, NEU1, NEURL4, NF1, NFASC, NFATC3, NFE2L2, NFKBIE, NHLRC1, NIF3L1, NINL, NIPA2, NISCH, NKD2, NLGN2, NLGN3, NLRC4, NLRC5, NLRP1, NLRP13, NLRP4, NLRP5, NLRP6, NLRP7, NLRP9, NMI, NNT, NOL10, NOL6, NOL7, NOL9, NOMO3, NOP14, NOP56, NOTCH4, NPC1L1, NPHP4, NPR3, NPRL3, NR1I3, NR2C2, NR4A1, NRN1, NRP2, NRXN3, NSUN2, NTHL1, NTRK3, NUP153, NYNRIN, OBSCN, OC90, OCEL1, ODF3, ODF3L2, OPRK1, OR10A2, OR10J3, OR13J1, OR1C1, OR1F1, OR2H2, OR2T8, OR4N2, OR4S1, OR5A1, OR5H15, OR6C6, OR8B8, ORAI3, ORC2, ORMDL2, OSBP2, OSBPL5, OSGEP, OSMR, OTOF, OTOG, OTOL1, OXCT1, P2RX1, PACS1, PAF1, PAFAH2, PAIP1, PAK1, PAK2, PALM, PAN3, PANK3, PARP14, PATL1, PBRM1, PCDHB8, PCDHGA10, PCDHGA11, PCDHGB6, PCDHGC3, PCDHGC5, PCID2, PCMTD2, PCNXL2, PCNXL3, PCSK4, PCYT1A, PDCD11, PDDC1, PDE6A, PDE8A, PDGFRB, PDLIM7, PDPR, PDZD2, PDZD8, PEAK1, PEG3, PER1, PER3, PEX1, PEX11G, PFKP, PGA5, PGP, PGR, PHC2, PHLPP2, PI4KB, PIAS3, PIAS4, PIDD, PIEZO2, PIGO, PIGQ, PIK3AP1, PIK3C2B, PIK3R2, PIK3R4, PINLYP, PIRT, PITPNM2, PKD1, PKD1L2, PKD2L1, PKDCC, PKMYT1, PKN2, PLB1, PLCD4, PLCG2, PLCXD3, PLD2, PLD3, PLEC, PLEKHA7, PLEKHG5, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLOD3, PLXDC1, PLXNA2, PLXNB2, PMEL, PMS1, PMS2, PNPLA2, PNPLA5, PNPLA6, POLB, POLD1, POLE, POLE2, POLH, POLM, POLR1E, POLR2A, POLR2L, POLR3E, POLRMT, POMGNT1, POTEC, POU2F3, PPFIA4, PPM1N, PPP1R10, PPP1R12A, PPP1R13L, PPP1R18, PPP1R1A, PPP2R1A, PPP2R3B, PPP2R5C, PPP2R5D, PRAMEF18, PRDM9, PREX1, PRKG1, PROM2, PRPF31, PRPF4B, PRPF8, PRPSAP2, PRR14L, PRR25, PRRT3, PRSS27, PRSS3, PSG1, PSG8, PSKH1, PSMD13, PSMD6, PSMD8, PTBP1, PTGER1, PTGES2, PTGES3L-AARSD1, PTGR1, PTK6, PTPN14, PTPN6, PTPRG, PTPRM, PTPRN2, PTPRS, PTPRT, PVR, PVRL2, PXDC1, PXN, PYGB, PZP, QSER1, QSOX1, RAB11FIP2, RABL5, RAD51AP1, RAI14, RALGAPB, RANBP1, RAPGEF3, RAPGEF5, RASGRP4, RASSF7, RBL1, RBM20, RBM22, RBM23, RBM25, RCC1, RDH5, RECK, RELN, RET, REXO1, RFX7, RGPD1, RGPD4, RHBDL1, RHOF, RHOT2, RIC8A, RIOK1, RNASE9, RND2, RNF10, RNF126, RNF168, RNF212, RNF26, RNH1, ROBO1, ROGDI, ROPN1L, RP11-302B13.5, RP11-386G21.2, RP11-683L23.1, RPAP1, RPH3A, RPL3L, RPL7A, RPP40, RQCD1, RREB1, RSPO3, RUFY2, RUNDC1, RUSC2, RYR2, SAA2, SACM1L, SBNO2, SCARA3, SCD, SCGB1C1, SCN1B, SCYL3, SDIM1, SEC14L5, SEC22A, SECISBP2L, SELE, SEMA3G, SEMA4G, SEMA5A, SEMA6A, SEMA6B, SEPP1, SERPINB6, SERPINB9, SET, SETD5, SFSWAP, SFTA2, SFXN4, SGOL2, SGSM2, SH2D3A, SH2D6, SH3GL1, SH3TC1, SH3YL1, SHB, SHC2, SHD, SHPK, SHROOM4, SIDT1, SIGLEC1, SIGLEC11, SIGLEC7, SIK3, SIPA1L3, SIRT5, SKIV2L, SKP2, SLC10A4, SLC12A6, SLC12A7, SLC13A5, SLC16A3, SLC17A2, SLC17A3, SLC17A4, SLC1A3, SLC22A12, SLC22A13, SLC22A6, SLC24A2, SLC25A2, SLC25A42, SLC25A44, SLC27A2, SLC2A13, SLC38A11, SLC51A, SLC6A16, SLC6A19, SLC6A5, SLC9A3, SLC9A5, SLCO1A2, SLCO5A1, SLIT2, SMARCA4, SMCHD1, SMEK1, SMIM22, SMO, SMR3B, SMTNL2, SMUG1, SNAP47, SNAPIN, SNRNP48, SNTA1, SNUPN, SNX15, SNX33, SOD2, SOGA1, SOGA2, SORBS3, SOWAHB, SPAG8, SPATA31A1, SPC24, SPDYE2, SPEF2, SPEN, SPHK2, SPINK4, SPPL2C, SPRYD3, SPTA1, SPTBN4, SPTBN5, SPTLC3, SRL, SRRM2, STAB1, STAP2, STC1, STIM2, STK36, STMND1, STOX2, STX2, STXBP5L, SUCO, SULT1A1, SULT1A2, SUN1, SURF6, SUV420H2, SVEP1, SYNE2, SYNGAP1, SYT8, SZRD1, SZT2, TACC3, TADA3, TAF10, TAF7, TAOK2, TAP1, TARDBP, TAS2R13, TBC1D20, TBC1D32, TBCCD1, TBXA2R, TCEB2, TCF12, TCF3, TCTE1, TDP2, TECPR1, TEK, TEKT1, TELO2, TERT, TEX2, TF, TFR2, TFRC, TG, TGFBR3L, TGM5, THADA, THEG, THEM6, TICAM1, TJP3, TLE2, TM4SF18, TMBIM6, TMEM106A, TMEM120B, TMEM129, TMEM18, TMEM194A, TMEM204, TMEM214, TMEM219, TMEM253, TMEM259, TMEM261, TMEM95, TMIGD2, TMOD3, TMPPE, TMPRSS11F, TNF, TNFAIP8L2, TNFRSF6B, TNFRSF8, TNFSF9, TNK1, TNPO2, TNR, TNRC18, TNRC6C, TNS1, TNXB, TOM1, TOMM5, TOP1MT, TOP2A, TOP3A, TP53, TPM2, TPPP, TPSG1, TRAC, TRAK1, TRANK1, TRAPPC10, TRAPPC5, TRAV8-1, TRBV20OR9-2, TRIM38, TRIM44, TRIM49B, TRIM6-TRIM34, TRIM67, TRIO, TRIOBP, TRIP13, TRIT1, TRMT61B, TRPC1, TRPM3, TRPM6, TRPM7, TRPV1, TSC1, TSC2, TSGA13, TSPAN11, TTC23L, TTC3, TTC38, TTC39B, TTC6, TTLL10, TTLL12, TTLL3, TTN, TTYH1, TUBA3C, TUBB, TUBB2A, TUBB4A, TUBB6, TUBGCP3, TUSC1, TXNDC2, TXNL4B, TXNRD2, TYRP1, TYW5, U2AF2, UBA7, UBE2O, UBE2S, UBLCP1, UBR2, UBTD1, UBXN6, UGT3A1, UHRF2, UQCC2, USP14, USP17L2, USP20, USP29, USP30, USP37, UTP20, UTP6, UTS2R, VARS, VARS2, VASH1, VIL1, VPS13B, VPS13C, VPS9D1, VRK3, VWA3A, VWA5A, VWA7, WARS2, WDR11, WDR18, WDR19, WDR24, WDR5, WDR66, WDR81, WDR90, WFIKKN1, WHSC1L1, WIZ, WRNIP1, WSCD2, WT1, XG, XPO4, YARS, YTHDC2, ZAR1, ZBED4, ZBTB41, ZBTB46, ZBTB5, ZBTB8B, ZC3H18, ZC3H3, ZCCHC11, ZCCHC3, ZCCHC7, ZDHHC11, ZDHHC11B, ZDHHC19, ZDHHC4, ZFHX2, ZFPM1, ZFR2, ZFYVE1, ZFYVE16, ZFYVE28, ZIC2, ZMPSTE24, ZMYM4, ZMYND11, ZNF131, ZNF143, ZNF148, ZNF225, ZNF283, ZNF286A, ZNF321P, ZNF414, ZNF416, ZNF418, ZNF419, ZNF44, ZNF444, ZNF461, ZNF483, ZNF541, ZNF550, ZNF554, ZNF555, ZNF557, ZNF558, ZNF563, ZNF564, ZNF567, ZNF57, ZNF578, ZNF579, ZNF585A, ZNF589, ZNF597, ZNF622, ZNF626, ZNF644, ZNF646, ZNF691, ZNF721, ZNF77, ZNF774, ZNF777, ZNF786, ZNF804A, ZNF816, ZNF862, ZNF880, ZNRF4, ZRANB3, ZSWIM8, ZZEF1,

Genes at Omim

A4GALT, ABCA3, ABCA7, ABCC8, ACADS, ACTC1, ACTN1, ACVRL1, ADAM17, AGPS, AGRN, AGXT, ALDH5A1, ALG3, ALOXE3, ALPL, AMACR, AMPD3, ANGPTL4, ANKH, AP1S1, AP4E1, APPL1, AQP7, ARMC5, ASPA, ASPM, ATM, ATP2A1, ATXN1, AXIN2, BCL10, BCL7A, BEST1, BTD, BTNL2, C3, C4A, C6, C7, C9, C9orf72, CACNA1H, CACNA1S, CACNA2D4, CAD, CALM1, CAMTA1, CC2D2A, CCDC78, CD151, CD2AP, CD81, CDKAL1, CECR1, CEL, CEP104, CERS1, CES1, CFHR5, CHRNA3, CHST3, CHSY1, CILP, CLCN7, CLPB, CNGB1, COG7, COL12A1, COL4A3BP, COL6A3, COMP, CSNK1D, CTC1, CUBN, CYBA, CYP4F22, DARS2, DCDC2, DCHS1, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DLX4, DNA2, DNAH11, DNAH5, DNAI1, DNMT1, DOCK8, DPM2, DSP, DTNA, DTNBP1, DYNC1H1, DYRK1A, EEF2, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERCC6, ERMAP, ESCO2, EXOSC3, EYS, F13A1, F13B, F2, FAM134B, FAM20C, FAM65B, FAN1, FANCE, FARS2, FBN1, FCGR3A, FCGR3B, FIBP, FLNC, FOLR1, FOXC1, FREM1, FRMPD4, FUT3, GARS, GAS8, GATM, GBA2, GCM2, GHR, GHRL, GIPC3, GLDC, GNAL, GNAO1, GPHN, GPR179, GPX4, GRK1, GUCY2C, HBD, HERC1, HFE, HMCN1, HP, HPCA, HRAS, HUWE1, HYAL1, IBA57, IDH3B, IFNA1, IFNL3, IFT74, IL17RA, IL1B, IL2RA, IL7R, INSR, IRF6, ITGB4, JAGN1, JAK3, KANK1, KCNC3, KDR, KIAA0319, KIAA1279, KIF1B, KIF22, KIT, KLF11, KLK1, KMT2A, KRT13, KRT2, KRT8, KRT9, LAMA1, LAMA2, LAMB1, LCAT, LDLR, LIFR, LMNB2, LMO2, LRPAP1, LTA, LTBP4, MAD1L1, MAK, MGAT2, MOCOS, MORC2, MST1R, MTAP, MTRR, MUC5B, MVD, MYBPC3, MYO9B, MYPN, NADK2, NBAS, NCR3, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NLGN3, NLRC4, NLRP1, NNT, NOP56, NPC1L1, NPHP4, NPR3, NPRL3, NSUN2, NTHL1, OSMR, OTOF, OTOG, OXCT1, P2RX1, PACS1, PCYT1A, PDE6A, PDGFRB, PER3, PEX1, PGR, PIEZO2, PIGO, PIK3R2, PKD1, PLCG2, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POLD1, POLH, POMGNT1, PPP2R1A, PPP2R5D, PRKG1, PRPF31, PRPF8, PTPN14, RBM20, RDH5, RELN, RET, RNF168, RNF212, ROGDI, RYR2, SCN1B, SELE, SERPINB6, SETD5, SFXN4, SH3GL1, SHROOM4, SIPA1L3, SKIV2L, SLC12A6, SLC13A5, SLC17A3, SLC1A3, SLC22A12, SLC6A19, SLC6A5, SLC9A3, SMARCA4, SMCHD1, SNTA1, SOD2, SPTA1, SYNE2, SYNGAP1, SZT2, TAP1, TARDBP, TBC1D20, TBXA2R, TCF12, TCF3, TDP2, TEK, TELO2, TERT, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNF, TNXB, TOP2A, TP53, TPM2, TRAC, TRIM44, TRIO, TRIOBP, TRPM6, TRPM7, TSC1, TSC2, TTN, TUBB, TUBB2A, TUBB4A, TYRP1, UQCC2, VARS2, VIL1, VPS13B, VPS13C, WDR11, WDR19, WDR81, WHSC1L1, WT1, XG, YARS, ZIC2, ZMPSTE24, ZMYND11, ZNF644,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCC8 Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTC1 Atrial septal defect 5, 612794 (3)
Cardiomyopathy, dilated, 1R, 613424 (3)
Cardiomyopathy, hypertrophic, 11, 612098 (3)
Left ventricular noncompaction 4, 613424 (3)
ACTN1 Bleeding disorder, platelet-type, 15, 615193 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)
AGPS Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ALG3 Congenital disorder of glycosylation, type Id, 601110 (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)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
AP1S1 MEDNIK syndrome, 609313 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
APPL1 {Maturity-onset diabetes of the young, type 14}, 616511 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPA Canavan disease, 271900 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (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)
ATP2A1 Brody myopathy, 601003 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
BTD Biotinidase deficiency, 253260 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (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 Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CALM1 Long QT syndrome 14, 616247 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CD81 Immunodeficiency, common variable, 6, 613496 (3)
CDKAL1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
CECR1 ?Sneddon syndrome, 182410 (3)
Polyarteritis nodosa, childhood-onset, 615688 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CEP104 Joubert syndrome 25, 616781 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CES1 Carboxylesterase 1 deficiency (3)
CFHR5 Nephropathy due to CFHR5 deficiency, 614809 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COL12A1 ?Ullrich congenital muscular dystrophy 2, 616470 (3)
Bethlem myopathy 2, 616471 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DEAF1 Mental retardation, autosomal dominant 24, 615828 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGKE Nephrotic syndrome, type 7, 615008 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DLX4 ?Orofacial cleft 15, 616788 (3)
DNA2 ?Seckel syndrome 8, 615807 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (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)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (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)
DTNA Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
EYS Retinitis pigmentosa 25, 602772 (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)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAM20C Raine syndrome, 259775 (3)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FARS2 ?Spastic paraplegia 77, autosomal recessive, 617046 (3)
Combined oxidative phosphorylation deficiency 14, 614946 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
FOXC1 Axenfeld-Rieger syndrome, type 3, 602482 (3)
Iridogoniodysgenesis, type 1, 601631 (3)
Iris hypoplasia and glaucoma, 601631 (3)
Rieger or Axenfeld anomalies, 602482 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
FUT3 [Blood group, Lewis] (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GCM2 Hypoparathyroidism, familial isolated, 146200 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GLDC Glycine encephalopathy, 605899 (3)
GNAL Dystonia 25, 615073 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
GPHN Molybdenum cofactor deficiency C, 615501 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRK1 Oguchi disease-2, 613411 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
HBD Thalassemia due to Hb Lepore (3)
Thalassemia, delta- (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HFE Hemochromatosis, 235200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HP [Anhaptoglobinemia], 614081 (3)
[Hypohaptoglobinemia], 614081 (3)
HPCA Dystonia 2, torsion, autosomal recessive, 224500 (3)
HRAS Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
{Bladder cancer, somatic}, 109800 (3)
{Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3)
{Spitz nevus or nevus spilus, somatic}, 137550 (3)
{Thyroid carcinoma, follicular, somatic}, 188470 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
IBA57 ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
IFNA1 Interferon, alpha, deficiency (1)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IL17RA ?Candidiasis, familial, 5, autosomal recessive, 613953 (3)
IL1B {Gastric cancer risk after H. pylori infection}, 137215 (3)
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF6 Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
{Orofacial cleft 6}, 608864 (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)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KDR Hemangioma, capillary infantile, somatic, 602089 (3)
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
KIF1B ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
Pheochromocytoma, 171300 (3)
{Neuroblastoma, susceptibility to, 1}, 256700 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT8 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMB1 Lissencephaly 5, 615191 (3)
LCAT Fish-eye disease, 136120 (3)
Norum disease, 245900 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LMO2 Leukemia, acute T-cell (2)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NDUFA13 {Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NDUFS7 Leigh syndrome, 256000 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NLRC4 ?Familial cold autoinflammatory syndrome 4, 616115 (3)
Autoinflammation with infantile enterocolitis, 616050 (3)
NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NPR3 ?Hypertension, salt-resistant (1)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NTHL1 Familial adenomatous polyposis 3, 616415 (3)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
P2RX1 Bleeding disorder due to P2RX1 defect, somatic, 609821 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PGR ?Progesterone resistance, 264080 (2)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (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)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RDH5 Fundus albipunctatus, 136880 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
ROGDI Kohlschutter-Tonz syndrome, 226750 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (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)
SELE [Blood pressure regulation QTL], 145500 (2)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SHROOM4 ?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SIPA1L3 ?Cataract 45, 616851 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TARDBP Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TERT {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
TF Atransferrinemia, 209300 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
TFRC Immunodeficiency 46, 616740 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TNF {Asthma, susceptibility to}, 600807 (3)
{Dementia, vascular, susceptibility to} (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Migraine without aura, susceptibility to}, 157300 (3)
{Septic shock, susceptibility to} (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
TRIM44 ?Aniridia 3, 617142 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
UQCC2 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VIL1 Cholestasis, progressive canalicular (1)
VPS13B Cohen syndrome, 216550 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
WDR19 ?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Nephronophthisis 13, 614377 (3)
Senior-Loken syndrome 8, 616307 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
XG [Blood group, XG system] (3)
YARS Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF644 Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

A4GALT, ABCA3, ABCC8, ACADS, ACTC1, ACTN1, ACVRL1, ADAM17, AGPS, AGRN, AGXT, ALDH5A1, ALG3, ALOXE3, ALPL, AMACR, AMPD3, ANKH, AP1S1, AP4E1, APPL1, ARMC5, ASPA, ASPM, ATM, ATP2A1, ATXN1, AXIN2, BCAM, BCL10, BEST1, BTD, C3, C4A, C6, C7, C9, CACNA1S, CACNA2D4, CAD, CALM1, CAMTA1, CC2D2A, CCDC14, CD151, CD27, CD2AP, CD81, CECR1, CEL, CERS1, CES1, CHST3, CHSY1, CLCN7, CLPB, CNGB1, COG7, COL12A1, COL4A3BP, COL6A3, COMP, CSNK1D, CTC1, CUBN, CYBA, CYP4F22, DARS2, DCDC2, DCHS1, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DLX4, DNA2, DNAH1, DNAH11, DNAH5, DNAI1, DNMT1, DOCK8, DPM2, DSP, DTNA, DTNBP1, DYNC1H1, DYRK1A, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERCC6, ERMAP, ESCO2, EXOSC3, EYS, F13A1, F13B, F2, FAM134B, FAM20C, FAM65B, FAN1, FANCE, FARS2, FBN1, FCGR3A, FERMT3, FLNC, FOLR1, FOXC1, FREM1, FUT3, GARS, GAS8, GATM, GBA2, GCM2, GHR, GIPC3, GLDC, GNAL, GNAO1, GPHN, GPR179, GPX4, GRIK4, GRK1, GUCY2C, HFE, HMCN1, HP, HPCA, HRAS, HUWE1, HYAL1, IBA57, IDH3B, IFNL3, IL17RA, IL2RA, IL7R, INSR, IRF6, ITGB4, JAGN1, JAK3, KANK1, KCNC3, KIAA0556, KIF1B, KIF22, KIT, KLF11, KMT2A, KRT13, KRT2, KRT9, LAMA1, LAMA2, LAMB1, LCAT, LDLR, LIFR, LMNB2, LRP1, LRPAP1, LTBP4, MAK, MGAT2, MORC2, MTAP, MTRR, MVD, MYBPC3, MYPN, NADK2, NBAS, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NLGN3, NLRC4, NLRP1, NLRP7, NNT, NOP56, NPC1L1, NPHP4, NTHL1, OSMR, OTOF, OTOG, OXCT1, PACS1, PBRM1, PCYT1A, PDE6A, PDGFRB, PER3, PEX1, PIEZO2, PIGO, PIK3R2, PKD1, PLCG2, PLEC, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POLD1, POLE, POLH, POMGNT1, PPP2R1A, PPP2R5D, PRKG1, PRPF31, PRPF8, PTPN14, RBM20, RDH5, RELN, RET, RNF168, ROGDI, RYR2, SCN1B, SERPINB6, SETD5, SFXN4, SHROOM4, SIPA1L3, SKIV2L, SLC12A6, SLC13A5, SLC1A3, SLC22A12, SLC6A19, SLC6A5, SMARCA4, SMCHD1, SNTA1, SPTA1, SYNE2, SYNGAP1, SZT2, TAP1, TARDBP, TBC1D20, TBXA2R, TCF12, TCF3, TDP2, TEK, TERT, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNXB, TP53, TPM2, TRAC, TRIOBP, TRPM6, TSC1, TSC2, TTN, TUBB, TUBB2A, TUBB4A, TYRP1, UQCC2, VARS2, VPS13B, VPS13C, WDR11, WDR19, WDR81, WT1, XG, YARS, ZIC2, ZMPSTE24, ZMYND11, ZNF644,
A4GALT Blood group, P system
ABCA3 Interstitial lung disease
Surfactant metabolism dysfunction, pulmonary, 3
ABCC8 Hypoglycemia, leucine-induced
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes, permanent neonatal
Diabetes mellitus, transient neonatal, 2
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTC1 Atrial septal defect 5
Left ventricular noncompaction
Cardiomyopathy, restrictive
Cardiomyopathy, familial hypertrophic 11
Cardiomyopathy, dilated , 1R
ACTN1 Bleeding disorder, platelet-type, 15
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
ADAM17 Inflammatory skin and bowel disease, neonatal 1
AGPS Rhizomelic chondrodysplasia punctata, type 3
AGRN Myasthenic syndrome, congenital 8
AGXT Hyperoxaluria, primary, type 1
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALG3 Congenital disorder of glycosylation, type Id
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMPD3 Erythrocytic AMP deaminase deficiency
ANKH Chondrocalcinosis 2
Craniometaphyseal dysplasia
AP1S1 MEDNIK syndrome
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
APPL1 Maturity-onset diabetes of the young, type 14
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPA Aspartoacylase deficiency (Canavan disease)
ASPM Microcephaly, primary autosomal recessive, 5
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
ATP2A1 Brody myopathy
ATXN1 Spinocerebellar ataxia 1
AXIN2 Oligodontia-colorectal cancer syndrome
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCL10 Immunodeficiency 37
BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Vitreoretinochoroidopathy
BTD Biotinidase deficiency
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C4A Blood group, Chido/Rodgers system
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CACNA2D4 Retinal cone dystrophy 4
CAD Congenital disorder of glycosylation, type Iz
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4
Recurrent cardiac arrest, infantile
Long QT syndrome 14
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CC2D2A COACH syndrome
Meckel syndrome 6
Joubert syndrome 9
CCDC14 Hypotonia, infantile, with psychomotor retardation
CD151 Raph blood group
CD27 Lymphoproliferative syndrome 2
CD2AP Focal segmental glomerulosclerosis 3
CD81 Immunodeficiency, common variable, 6
CECR1 Sneddon syndrome
Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
CEL Maturity-onset diabetes of the young, type 8
CERS1 Epilepsy, progressive myoclonic 8
CES1 Carboxylesterase 1 deficiency
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHSY1 Temtamy preaxial brachydactyly syndrome
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
CNGB1 Retinitis pigmentosa 45
COG7 Congenital disorder of glycosylation, type IIe
COL12A1 Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
COL4A3BP Mental retardation, autosomal dominant 34
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
COMP Multiple ephiphyseal dysplasia
Pseudoachondroplasia
CSNK1D Advanced sleep-phase syndrome, familial, 2
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CUBN Megaloblastic anemia-1, Finnish type
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCDC2 Deafness, autosomal recessive 66
DCHS1 Mitral valve prolapse 2
DEAF1 Mental retardation, autosomal dominant 24
DEPDC5 Epilepsy, familial focal, with variable foci
DGKE Nephrotic syndrome, type 7
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DIAPH1 Deafness, autosomal dominant 1
DLX4 Orofacial cleft 15
DNA2 Seckel syndrome 8
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
DNAH1 Spermatogenic failure
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNA Left ventricular noncompaction 1
DTNBP1 Hermansky-Pudlak syndrome 7
DYNC1H1 Spinal muscular atrophy, lower extremity, autosomal dominant
Mental retardation, autosomal dominant 13
Charcot-Marie-Tooth disease, axonal, type 2O
DYRK1A Mental retardation, autosomal dominant 7
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
ELOVL5 Spinocerebellar ataxia 39
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERCC6 Premature ovarian failure 11 (AD)
De Sanctis-Cacchione syndrome
Xeroderma Pigmentosum-Cockayne Syndrome
ERMAP Blood group, Radin
Blood group, Scianna system
ESCO2 Roberts syndrome
SC phocomelia syndrome
EXOSC3 Pontocerebellar hypoplasia type 1B
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
F13B Factor XIIIB deficiency
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM65B Deafness, autosomal recessive 104
FAN1 Interstitial nephritis, karyomegalic
FANCE Fanconi anemia, complementation group E
FARS2 Combined oxidative phosphorylation deficiency 14
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
FCGR3A Immunodeficiency 20
FERMT3 Leukocyte adhesion deficiency, type III
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
FOLR1 Cerebral folate deficiency
FOXC1 Iridogoiodysgenesis, type 1
Axenfeld-Rieger syndrome, type 3
Peters anomaly
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FUT3 Blood group, Lewis
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
GAS8 Ciliary dyskinesia, primary, 33
GATM Cerebral creatine deficiency syndrome 3
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GCM2 Hypoparathyroidism, familial isolated
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GIPC3 Deafness, autosomal recessive 15
GLDC Glycine encephalopathy
GNAL Primary torsion dystonia
GNAO1 Epileptic encephalopathy, early infantile, 17
GPHN Molybdenum cofactor deficiency, type C
Hyperekplexia, autosomal dominant
GPR179 Night blindness, congenital stationary, type 1E
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GRIK4 Response to antidepressant treatment with citalopram
GRK1 Oguchi disease 2
GUCY2C Meconium ileus
Diarrhea 6
HFE Hemochromatosis
HMCN1 Macular degeneration, age-related, 1
HP Hypohaptoglobinemia
Anhaptoglobinemia
HPCA Dystonia 2, torsion, autosomal recessive
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
HUWE1 Mental retardation, X-linked syndromic, Turner type
HYAL1 Mucopolysaccharidosis type IX
IBA57 Spastic paraplegia 74, autosomal recessive
Multiple mitochondrial dysfunctions syndrome 3
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
IFNL3 Drug metabolism, IL28B-related
IL17RA Candiasis, familial, 5
IL2RA Interleukin 2 receptor, alpha, deficiency of
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
IRF6 Orofacial cleft 6
van der Woude syndrome 1
Popliteal pterygium syndrome
ITGB4 Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
JAGN1 Neutropenia, severe congenital, 6
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNC3 Spinocerebellar ataxia 13
KIAA0556 Joubert syndrome 26
KIF1B Pheochromocytoma
Neuroblastoma, susceptibility to
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIT Gastrointestinal stromal tumor
KLF11 Maturity-onset diabetes of the young, type VII
KMT2A Wiedemann-Steiner syndrome
KRT13 White sponge nevus 2
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
KRT9 Knuckle pads
Palmoplantar keratoderma, epidermolytic
LAMA1 Poretti-Boltshauser syndrome
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMB1 Lissencephaly 5
LCAT Fish-eye disease
Lecithin:cholesterol acyltransferase deficiency (Norum disease)
LDLR Hypercholesterolemia, familial
LIFR Stuve-Wiedemann syndrome
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LRP1 Schizophrenia
LRPAP1 Myopia 23, autosomal recessive
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAK Retinitis pigmentosa 62
MGAT2 Congenital disorder of glycosylation, type IIa
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MVD Porokeratosis 7
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NDUFA11 Mitochondrial complex I deficiency
NDUFA13 Thyroid carcinoma, Hurthle cell
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency
NEU1 Sialidosis, type II
Sialidosis, type I
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NLGN3 Autism, X-linked 1
Asperger syndrome, X-linked 1
NLRC4 Familial cold autoinflammatory syndrome 4
Autoinflammation with infantile enterocolitis (AIFEC)
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NLRP7 Hydatidiform mole, recurrent, 1
NNT Glucocorticoid deficiency 4
NOP56 Spinocerebellar ataxia 36
NPC1L1 Ezetimibe, nonresponse to
NPHP4 Senior-Loken syndrome 4
Nephronophthisis 4
NTHL1 Familial adenomatous polyposis 3
OSMR Amyloidosis, primary localized cutaneous, 1
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
OTOG Deafness, autosomal recessive 18B
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PACS1 Mental retardation, autosomal dominant 17
PBRM1 Clear cell renal cell carcinoma
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6A Retinitis pigmentosa 43
PDGFRB Premature aging syndrome, Penttinen type
Myofibromatosis, infantile 1
Kosaki overgrowth syndrome
Basal ganglia calcification, idiopathic, 4
PER3 Advanced sleep phase syndrome, familial, 3
PEX1 Heimler syndrome 1
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
PIGO Hyperphosphatasia with mental retardation syndrome 2
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PKD1 Polycystic kidney disease, adult type I
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Familial cold autoinflammatory syndrome 3 (PLAID)
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4
Charcot-Marie-Tooth disease C, recessive intermediate
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PNPLA2 Neutral lipid storage disease with myopathy
PNPLA6 Oliver-McFarlane syndrome
Laurence-Moon syndrome
Boucher-Neuhauser syndrome
POLD1 Colorectal cancer, susceptibility to, 10
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
POLH Xeroderma pigmentosum, variant type
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
PPP2R1A Mental retardation, autosomal dominant 36
PPP2R5D Mental retardation, autosomal dominant 35
PRKG1 Aortic aneurysm, familial thoracic 8
PRPF31 Retinitis pigmentosa 11
PRPF8 Retinitis pigmentosa 13
PTPN14 Choanal atresia and lymphedema
RBM20 Cardiomyopathy, dilated, 1DD
RDH5 Fundus albipunctatus
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RNF168 RIDDLE syndrome
ROGDI Kohlschutter-Tonz syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SERPINB6 Deafness, autosomal recessive 91
SETD5 Mental retardation, autosomal dominant 23
SFXN4 Combined oxidative phosphorylation deficiency 18
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SIPA1L3 Cataract 45
SKIV2L Trichohepatoenteric syndrome 2
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC1A3 Episodic ataxia, type 6
SLC22A12 Hypouricemia, renal 1
SLC6A19 Hartnup disease
SLC6A5 Hyperekplexia 3
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SNTA1 Long QT syndrome 12
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNGAP1 Mental retardation, autosomal dominant 5
SZT2 Epileptic encephalopathy, early infantile, 18
TAP1 Bare lymphocyte syndrome, type I
TARDBP Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
TBC1D20 Warburg micro syndrome 4
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF12 Craniosynostosis 3
TCF3 Agammaglobulinemia 8, autosomal dominant
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TEK Venous malformations, multiple cutaneous and mucosal
TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
Dyskeratosis congenita, autosomal recessive
Dyskeratosis congenita, autosomal dominant
Aplastic anemia
TF Atransferrinemia
TFR2 Hemochromatosis, type 3
TFRC Immunodeficiency 46
TG Thyroid dyshormonogenesis 3
TGM5 Peeling skin syndrome 2
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TPM2 Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 1A
CAP myopathy
Nemaline myopathy 4
TRAC T-cell receptor-alpha/beta deficiency
TRIOBP Deafness, autosomal recessive 28
TRPM6 Hypomagnesemia 1, intestinal
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TUBB Cortical dysplasia, complex, with other brain malformations 6
Congenital symmetric circumferential skin creases 1
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
TYRP1 Albinism, oculocutaneous, type III
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VARS2 Combined oxidative phosphorylation deficiency 20
VPS13B Cohen syndrome
VPS13C Parkinson disease 23, autosomal recessive, early onset
WDR11 Kallmann syndrome
Hypogonadotropic hypogonadism
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome
XG XG blood group
YARS Charcot-Marie-Tooth disease, dominant intermediate C
ZIC2 Holoprosencephaly 5
ZMPSTE24 Restrictive dermopathy, lethal
Mandibuloacral dysplasia with type B lipodystrophy
ZMYND11 Mental retardation, autosomal domianant, 30
ZNF644 Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 75034
Number of Genes: 1568

Export to: CSV
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 23 recalibrated filtered postcgp gqfiltered 11 rs9943678
dbSNP
786953 1189.31 C G PASS 0/1 31 None None None 0.64237 0.64240 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 rs9932794
dbSNP
77817102 30138.88 A G PASS 0/1 26 None None None 0.59884 0.59880 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 rs9908184
dbSNP
39195150 2727.91 C T PASS 0/1 6 None None None 0.22244 0.22240 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs9886852
dbSNP
10033813 607.55 G A PASS 0/1 61 None None None 0.28155 0.28150 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs9886850
dbSNP
10033774 919.66 G A PASS 0/1 101 None None None 0.40875 0.40870 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs9795476
dbSNP
235894 2955.4 T G PASS 0/1 24 None None None 0.81629 0.81630 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 rs974455
dbSNP
485078 2123.7 G A PASS 0/1 119 None None None 0.57248 0.57250 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs9705236
dbSNP
842627 3857.03 T C PASS 0/1 32 None None None 0.65415 0.65420 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs9704922
dbSNP
842775 711.56 G A PASS 0/1 39 None None None 0.26378 0.26380 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs9704919
dbSNP
842682 1598.36 A G PASS 0/1 24 None None None 0.64597 0.64600 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs9704020
dbSNP
842630 3830.84 C T PASS 0/1 29 None None None 0.64697 0.64700 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs968197
dbSNP
6587054 47656.71 A T PASS 0/1 58 None None None 0.44689 0.44690 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs9646493
dbSNP
737083 578.38 G T PASS 0/1 7 None None None 0.02236 0.02236 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs9407354
dbSNP
676692 2134.57 T C PASS 0/1 17 None None None 0.19169 0.19170 None None None None None None None

FOXD4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs9406416
dbSNP
118032 38386.42 G A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.18351 0.18350 None None None None None None None
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 23 recalibrated filtered postcgp gqfiltered 9 rs927315
dbSNP
4117713 57467.3 C T PASS 0/1 17 None None None 0.41194 0.41190 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs919797
dbSNP
4498157 8362.32 G A PASS 0/1 36 None None None 0.38658 0.38660 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs9140
dbSNP
1057318 89634.0 A G PASS 0/1 40 None None None 0.78155 0.78150 0.31660 None None None None None None None

DOCK8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs913703
dbSNP
370244 36454.84 A G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.21586 0.21590 0.25181 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs913589
dbSNP
7174773 98988.57 G A PASS 0/1 14 None None None 0.55851 0.55850 0.42373 None None None None None None None

KDM4C

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 23 recalibrated filtered postcgp gqfiltered 9 rs913588
dbSNP
7174673 143238.8 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31829 0.31830 0.44787 1.00 0.21 1.77 None None None None None None None
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 23 recalibrated filtered postcgp gqfiltered 9 rs912207
dbSNP
6986267 11577.62 T G PASS 0/1 6 None None None 0.61681 0.61680 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs869265487
dbSNP
13219069 199.02 CTT CT... PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs869148275,rs34627090,rs796360804,rs869060904
dbSNP
840578 9711.64 AC A,ACC PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs869043382,rs56265615
dbSNP
837661 15424.83 GT G PASS 0/1 17 None None None 0.39217 0.39220 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs868673462
dbSNP
95941196 249.38 C T PASS 0/1 18 None None None 3.87 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 rs868653473
dbSNP
18189351 468.94 C T PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs868235429
dbSNP
53070332 5740.35 G A PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs867390887
dbSNP
60767749 53620.53 G A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs8672
dbSNP
838634 657.65 C G PASS 0/1 14 None None None 0.64557 0.64560 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs866862641
dbSNP
97167605 1713.13 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs866411223,rs17155725
dbSNP
810009 1323.32 TC... T PASS 0/1 36 None None None 0.28714 0.28710 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 rs866150608
dbSNP
17559 147.89 G C PASS 0/1 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs865954606
dbSNP
134918 102.64 G A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs865914656
dbSNP
106378012 10372.77 A G VQSRTrancheSNP99.90to100.00 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs841990
dbSNP
4793254 5658.66 G A PASS 0/1 80 None None None 0.50759 0.50760 0.47272 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs8111051
dbSNP
290947 761.51 C A PASS 0/1 18 None None None 0.34944 0.34940 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs8107095
dbSNP
859831 1299.93 T G PASS 0/1 69 None None None 0.13159 0.13160 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs8100561
dbSNP
799342 36586.77 G C PASS 0/1 52 None None None 0.32628 0.32630 0.28748 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs8096198
dbSNP
120645 16471.86 C T PASS 0/1 9 None None None 0.39717 0.39720 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs80179088,rs71509924
dbSNP
14889 2410.61 A G PASS 0/1 18 None None None 0.48383 0.48380 1.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 rs80013557
dbSNP
947682 293.24 C T PASS 0/1 29 None None None 0.04692 0.04692 None None None None None None None

MUC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs79986665
dbSNP
1017483 147.56 T G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 -0.94 None None None None None None None

RNH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs7983
dbSNP
494942 9584.74 G C PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.33287 0.33290 0.37565 None None None None None None None

ACP1

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 23 recalibrated filtered postcgp gqfiltered 2 rs79716074
dbSNP
277003 28443.2 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26418 0.26420 0.30346 0.12 0.05 1.27 None None rs79716074 2 ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF 0 None
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 23 recalibrated filtered postcgp gqfiltered 9 rs796998949
dbSNP
27063177 296.74 T C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs796968841
dbSNP
112165 39.42 C T PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 rs796787346
dbSNP
23896909 41223.02 C T PASS 0/1 121 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs796780338
dbSNP
33252557 345.61 TTA TT... PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs796771441,rs57955929
dbSNP
32450870 2976.56 TAG T PASS 0/1 161 None None None 0.02776 0.02776 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs796732646,rs3830667
dbSNP
244490 193967.99 AT... A PASS 0/1 46 None None None 0.81530 0.81530 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs796692571
dbSNP
112179 113.05 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs796691481
dbSNP
134722 122.78 G T PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs796625655
dbSNP
12667 89.59 A G PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7952095
dbSNP
774982 2740.35 C A PASS 0/1 32 None None None 0.47484 0.47480 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7950955
dbSNP
1011490 7496.57 G A PASS 0/1 84 None None None 0.42931 0.42930 0.48120 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7944548
dbSNP
502217 4107.72 C T PASS 0/1 57 None None None 0.29074 0.29070 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7942564
dbSNP
775275 2425.19 A G PASS 0/1 8 None None None 0.45168 0.45170 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7942159
dbSNP
822622 54232.55 A G PASS 0/1 23 None None None 0.44249 0.44250 0.44076 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs79332955
dbSNP
433816 3907.4 C G PASS 0/1 44 None None None 0.00040 0.00040 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7930593
dbSNP
502013 4224.6 G A PASS 0/1 23 None None None 0.30871 0.30870 0.35903 None None None None None None None

PDDC1

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 23 recalibrated filtered postcgp gqfiltered 11 rs7930569
dbSNP
771034 14828.88 A G PASS 0/1 90 None None None 0.43251 0.43250 0.44094 None None None None None None None
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 23 recalibrated filtered postcgp gqfiltered 18 rs79260101,rs149205930
dbSNP
112336 266.01 C G PASS 0/1 14 None None None None None None None None None None

MUC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs79139625
dbSNP
1027174 3874.4 G A PASS 0/1 184 SYNONYMOUS_CODING LOW SILENT 0.01318 0.01318 0.02885 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs79114042,rs200633070
dbSNP
14396 491.03 A G PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs79047128
dbSNP
137744009 40289.36 T C PASS 0/1 139 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 rs78956803
dbSNP
46784524 114345.1 A G PASS 0/1 54 None None None 0.00759 0.00759 None None None None None None None

MUC6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs78819924
dbSNP
1017789 318.82 A C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.18 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact