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, AARS2, AATK, ABCA10, ABCA3, ABCA7, ABCB8, ABCC1, ABCC3, ABCC5, ABCC8, ABCG4, ABHD15, ABHD17A, ABHD8, AC024592.12, AC025278.1, AC026703.1, AC079354.1, AC079612.1, AC104809.3, AC105020.1, AC126614.1, AC135178.1, ACAD11, ACADS, ACAP1, ACER1, ACER2, ACKR2, ACO1, ACOT11, ACOT4, ACP1, ACSBG1, ACSBG2, ACSM2A, ACSM2B, ACSM5, ACTC1, ACTN1, ACTN2, ACTR5, ACVRL1, ADAM15, ADAM17, ADAM33, ADAMTS12, ADAMTS16, ADAMTS3, ADAMTS6, ADAMTSL1, ADAMTSL3, ADAMTSL5, ADCY2, ADCYAP1, ADIG, ADIPOR1, ADTRP, AEBP1, AFF1, AGFG2, AGPS, AGRN, AGXT, AGXT2, AHCY, AHNAK, AHRR, AK8, AKAP5, AKAP8, AKR1A1, AL031666.2, AL033381.1, AL049840.1, AL359878.1, ALAS1, ALDH16A1, ALDH18A1, ALDH1A3, ALDH1B1, ALDH5A1, ALG3, ALKBH2, ALOX15, ALOX15B, ALOXE3, ALPL, AMACR, AMER3, AMH, AMPD3, ANAPC1, ANAPC15, ANGPTL4, ANK1, ANKDD1A, ANKFY1, ANKH, ANKIB1, ANKRD12, ANKRD13A, ANKRD16, ANKRD17, ANKRD18A, ANKRD18B, ANKRD24, ANKRD30B, ANKRD33B, ANKRD52, ANKRD55, ANKRD62, ANKRD65, ANKRD9, ANKS4B, ANO9, ANXA2R, AOX1, AP001631.10, AP1G2, AP1S1, AP2A1, AP2A2, AP3D1, AP4E1, AP5B1, APBA3, APC2, APEH, APIP, APOA1BP, APOBEC3B, APPBP2, APPL1, AQP3, AQP7, ARC, ARFGAP1, ARFGAP3, ARFIP2, ARFRP1, ARHGAP1, ARHGAP11B, ARHGAP28, ARHGEF11, ARHGEF16, ARHGEF18, ARHGEF39, ARID1A, ARID3A, ARID3C, ARID5A, ARL4D, ARMC5, ARNTL, ARPC1B, ARRDC5, ARVCF, ASB11, ASB14, ASGR1, ASGR2, ASIC1, ASIC3, ASPA, ASPDH, ASPM, ASS1, ATAD3A, ATAD3C, ATF6B, ATF7IP2, ATHL1, ATM, ATMIN, ATP11A, ATP13A1, ATP1B2, ATP2A1, ATP2B4, ATP2C2, ATP4A, ATP5I, ATP5J2-PTCD1, ATP6V1B1, ATP6V1G2-DDX39B, ATP8B2, ATP8B3, ATP8B4, ATRN, ATXN1, ATXN2L, AXIN2, AZU1, B4GALNT4, BACE1, BAG1, BAI1, BAIAP3, BASP1, BAZ1B, BAZ2A, BCAM, BCL10, BCL7A, BECN1, BEST1, BGLAP, BIRC8, BMP6, BNIPL, BOD1L1, BRD1, BRD7, BRD9, BRPF1, BRSK2, BSN, BST1, BTAF1, BTBD2, BTD, BTN1A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, C11orf16, C11orf24, C11orf35, C12orf4, C12orf42, C12orf49, C12orf56, C15orf59, C16orf3, C16orf62, C16orf71, C16orf96, C16orf98, C17orf64, C18orf56, C19orf24, C19orf59, C19orf77, C1GALT1C1, C1orf167, C1orf213, C1orf85, C2, C20orf96, C2CD2L, C2CD4C, C2CD4D, C2CD5, C2orf44, C2orf57, C2orf71, C3, C3orf33, C4A, C4orf19, C4orf21, C4orf36, C5orf22, C5orf34, C5orf38, C5orf49, C6, C6orf10, C6orf195, C6orf201, C6orf222, C6orf25, C6orf47, C7, C7orf60, C7orf72, C9, C9orf131, C9orf24, C9orf38, C9orf66, C9orf72, CA11, CA5B, CA9, CACNA1E, CACNA1F, CACNA1H, CACNA1S, CACNA2D4, CACNG6, CACTIN, CAD, CADPS, CADPS2, CAGE1, CALM1, CAMK1G, CAMK2B, CAMKV, CAMSAP3, CAMTA1, CAP2, CAPN11, CAPN13, CAPN3, CAPSL, CAPZB, CARD10, CARD6, CASC5, CASKIN1, CBLN2, CBWD1, CC2D2A, CCBL1, CCDC102A, CCDC107, CCDC120, CCDC135, CCDC136, CCDC14, CCDC152, CCDC154, CCDC171, CCDC176, CCDC182, CCDC19, CCDC33, CCDC37, CCDC38, CCDC73, CCDC78, CCDC82, CCDC88A, CCDC88B, CCDC88C, CCDC94, CCDC96, CCHCR1, CCIN, CCL24, CCNL2, CCRL2, CCS, CCT3, CCT5, CD151, CD27, CD2AP, CD2BP2, CD37, CD70, CD81, CDC42EP2, CDC7, CDCA2, CDCP2, CDH10, CDH12, CDH16, CDH18, CDH6, CDH7, CDH9, CDHR5, CDK11A, CDK12, CDK2, CDKAL1, CDYL, CECR1, CECR5, CECR6, CEL, CELF5, CELSR3, CEP104, CEP192, CEP350, CEP72, CER1, CERCAM, CERS1, CERS2, CES1, CES2, CETN1, CFHR5, CHAD, CHD3, CHD8, CHID1, CHRD, CHRM1, CHRM5, CHRNA3, CHRNB2, CHRNB4, CHST10, CHST3, CHSY1, CHTOP, CIDEA, CILP, CILP2, CIRBP, CISH, CIT, CKAP5, CKB, CKM, CLC, CLCN7, CLDN16, CLDN6, CLEC16A, CLEC17A, CLIC1, CLIC6, CLK4, CLMN, CLOCK, CLPB, CLPTM1L, CLSTN3, CLTCL1, CMBL, CMYA5, CNGB1, CNN2, CNOT4, CNTD1, CNTD2, CNTLN, CNTN4, CNTNAP3, CNTROB, COCH, COG7, COL11A2, COL12A1, COL20A1, COL4A3BP, COL5A3, COL6A3, COL6A5, COLEC12, COLGALT1, COMP, COPS7A, COPS7B, COPS8, CORO1C, CPAMD8, CPEB2, CPNE5, CPXM1, CPZ, CRABP2, CRELD2, CRIM1, CRLF3, CROCC, CRYAA, CRYBG3, CSMD1, CSNK1D, CSNK1G2, CSRP2BP, CST6, CTC1, CTD-2368P22.1, CTD-3193O13.9, CTNNAL1, CTNNBIP1, CTNND2, CTR9, CUBN, CWH43, CXCL16, CYBA, CYFIP1, CYP21A2, CYP2C18, CYP2W1, CYP4F12, CYP4F22, CYTH1, CYTH4, DAB2, DAGLA, DAP, DAPK3, DARS2, DAXX, DBH, DBP, DCAF12, DCAF5, DCAF6, DCDC2, DCHS1, DCLK2, DDA1, DDX25, DDX39B, DEAF1, DEFA1, DENND1C, DENND4C, DEPDC5, DESI1, DESI2, DGKA, DGKE, DHRS4, DHTKD1, DHX16, DHX34, DHX40, DHX8, DIAPH1, DKFZP434E1119, DLG1, DLGAP2, DLX2, DLX4, DMRT1, DMRT2, DMRT3, DMRTA1, DMRTC2, DNA2, DNAH1, DNAH11, DNAH12, DNAH14, DNAH2, DNAH3, DNAH5, DNAH7, DNAH8, DNAH9, DNAI1, DNAJA1, DNAJC1, DNHD1, DNMT1, DOCK3, DOCK8, DOHH, DOT1L, DPCR1, DPEP1, DPM2, DPY19L3, DRAXIN, DROSHA, DSCAM, DSCAML1, DSN1, DSP, DTNA, DTNBP1, DUSP22, DUSP28, DUSP3, DUSP8, DYNC1H1, DYRK1A, E2F3, EAPP, EARS2, EBI3, ECE1, EED, EEF1A2, EEF2, EEFSEC, EFCAB11, EFCAB12, EFCAB4A, EFCAB5, EFCAB6, EGFLAM, EGR4, EHBP1L1, EIF2AK3, EIF3B, EIF4G1, ELANE, ELFN2, ELOVL5, EMC10, EMC4, EMILIN2, EML6, EMR1, EMR3, ENDOV, ENTHD1, ENTPD3, ENTPD4, EP300, EP400, EPB41L3, EPHA2, EPN3, EPPK1, EPS15L1, EPS8L1, EPS8L2, EQTN, ERCC6, ERF, ERMAP, ERMP1, ERN2, ESCO2, ESYT3, ETV4, ETV7, EVI5L, EXD1, EXOC3, EXOC3L4, EXOSC2, EXOSC3, EXOSC7, EYA2, EYS, F13A1, F13B, F2, F2RL3, F5, FAIM2, FAM110C, FAM115C, FAM134B, FAM151A, FAM154A, FAM160B1, FAM161B, FAM166B, FAM173B, FAM178A, FAM183A, FAM187A, FAM193B, FAM194B, FAM200B, FAM205A, FAM206A, FAM208A, FAM20C, FAM210A, FAM214B, FAM215A, FAM217A, FAM230A, FAM24A, FAM53A, FAM65B, FAM71F2, FAM83H, FAM89B, FAM8A1, FAN1, FANCD2OS, FANCE, FARS2, FASN, FASTKD3, FBN1, FBN3, FBXL18, FBXO10, FBXO18, FBXO24, FBXO36, FBXO42, FBXO45, FBXW10, FBXW12, FCGBP, FCGR3A, FCGR3B, FCHSD2, FCRL1, FEM1A, FER1L6, FERMT1, FERMT3, FGD2, FGF22, FGFR3, FGR, FHAD1, FHOD1, FIBP, FICD, FILIP1, FIS1, FKBP4, FKBPL, FLII, FLJ00273, FLNA, FLNC, FLT3LG, FN1, FNBP1, FNDC5, FNDC7, FOCAD, FOLR1, FOXA3, FOXC1, FOXD4, FOXK1, FOXN3, FOXO1, FOXQ1, FREM1, FRMPD1, FRMPD4, FSD1, FSIP1, FSIP2, FSTL3, FUK, FUT3, FUT5, FUT6, FUZ, FXR2, FYB, FYCO1, GABARAPL1, GADD45B, GAGE10, GAGE12F, GAGE12H, GAL3ST4, GALC, GALNT15, GALR3, GARNL3, GARS, GAS8, GATM, GBA2, GBF1, GCM2, GCNT2, GFI1B, GFOD1, GFY, GGA2, GGN, GGT5, GGTLC3, GHR, GHRL, GIPC3, GJA9, GK, GLB1L3, GLDC, GLI4, GLIS3, GLYR1, GMDS, GMIP, GNA15, GNAL, GNAO1, GNMT, GOLGA2, GOLGA4, GOLGA6L19, GOLGA6L4, GORASP1, GPAT2, GPHN, GPLD1, GPR107, GPR108, GPR113, GPR115, GPR116, GPR125, GPR128, GPR161, GPR162, GPR179, GPR25, GPR56, GPR78, GPR89C, GPR98, GPRC5A, GPSM2, GPX4, GPX8, GRAMD1A, GRB14, GRHL3, GRHPR, GRIK4, GRIN2D, GRIN3B, GRK1, GRK6, GRM5, GSAP, GSE1, GSTP1, GTF3C5, GUCY2C, GUF1, GUK1, GZMM, HAGHL, HAPLN2, HAUS5, HAUS6, HAUS7, HAUS8, HBD, HCAR1, HCG27, HCN2, HDGFL1, HDGFRP2, HDLBP, HEATR1, HEATR4, HEATR6, HECTD2, HEG1, HELZ2, HENMT1, HERC1, HES2, HEYL, HFE, HHIPL1, HIF3A, HIP1R, HIST1H1C, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AD, HIST1H2BA, HIST1H3C, HIST1H4B, HIST1H4C, HIST1H4E, HIST1H4H, HIVEP1, HMCN1, HMGCS1, HMHA1, HNF1B, HNRNPLL, HNRNPUL1, HOOK2, HOXA13, HP, HPCA, HPN, HPR, HRAS, HS3ST6, HSCB, HSD17B6, HSD17B8, HSP90AB1, HSPA1A, HTR5A, HTR7, HUS1B, HUWE1, HYAL1, IBA57, IDE, IDH3B, IER3, IFFO2, IFITM1, IFITM2, IFITM3, IFNA1, IFNA4, IFNAR1, IFNK, IFNL3, IFT74, IGFBPL1, IGKV3D-15, IGSF10, IGSF22, IKZF4, IL17C, IL17RA, IL17REL, IL1B, IL2RA, IL33, IL7R, ILF2, ILK, ILVBL, INF2, INO80, INPP4A, INSC, INSL4, INSR, INSRR, IPP, IQCC, IQGAP1, IQGAP3, IRAK2, IREB2, IRF2BP1, IRF6, IRF7, IRGQ, IRX1, IRX2, ITFG2, ITGAD, ITGAE, ITGAX, ITGB4, ITIH1, ITIH3, ITPR3, IZUMO3, JAGN1, JAK2, JAK3, JARID2, JMJD4, JMJD8, JSRP1, JUND, JUP, KANK1, KAT8, KCNAB2, KCNC3, KCNH3, KCNH5, KCNK6, KCNQ2, KCNQ5, KDM1A, KDM1B, KDM4B, KDM4C, KDM5B, KDM8, KDR, KHSRP, KIAA0020, KIAA0319, KIAA0430, KIAA0556, KIAA0922, KIAA0947, KIAA1161, KIAA1279, KIAA1324, KIAA1432, KIAA1467, KIAA1549, KIAA2026, KIF13A, KIF18A, KIF18B, KIF1B, KIF22, KIF24, KIF6, KIFC3, KIR2DS4, KISS1R, KIT, KLB, KLF11, KLF16, KLHDC2, KLHL22, KLK1, KLK11, KLK15, KLK2, KLK7, KLRB1, KMT2A, KREMEN2, KRT13, KRT15, KRT2, KRT23, KRT35, KRT8, KRT82, KRT84, KRT9, KRTAP10-12, KRTAP10-4, KRTAP10-5, KRTAP3-1, LAG3, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAP3, LARS2, LATS1, LCAT, LCE1E, LCN2, LDHD, LDLR, LDLRAD4, LEF1, LEO1, LEPRE1, LEPREL2, LGI4, LIFR, LILRA2, LILRA3, LILRA4, LILRB1, LILRB2, LILRB3, LILRB5, LIMK2, LINGO3, LINGO4, LLGL1, LMBRD2, LMNB2, LMO2, LMOD1, LPAR5, LPCAT1, LPCAT2, LPPR3, LRFN4, LRIF1, LRP1, LRP10, LRP4, LRPAP1, LRRC10B, LRRC14B, LRRC16A, LRRC37A, LRRC56, LRRC71, LRRC8E, LRRC9, LRRIQ3, LRTOMT, LSR, LTA, LTB, LTBP4, LTBR, LUC7L2, LURAP1L, LY6D, LY6G5B, LY6G5C, LY6G6C, LYVE1, MACF1, MAD1L1, MAD2L2, MADCAM1, MAFA, MAGEB2, MAGEC3, MAK, MALRD1, MAN2C1, MAP1B, MAP2K2, MAP2K3, MAP3K5, MAP4K1, MAP4K4, MAP4K5, MAPK8, MARCH11, MARCH6, MARK1, MARK4, MAST3, MAZ, MBD3L2, MBD3L3, MC5R, MCAM, MCF2L, MCIDAS, MCM7, MCMBP, MDM1, MED10, MED16, MED26, MED29, MEGF6, MEGF9, MEI1, MELK, MEMO1, METRN, METTL12, METTL14, METTL22, METTL4, METTL6, MFSD10, MFSD11, MFSD12, MFSD6, MGA, MGAM, MGAT2, MGAT5B, MICALL2, MIDN, MIEF2, MINK1, MISP, MKNK2, MLLT4, MLTK, MLYCD, MMP17, MMP3, MNT, MOCOS, MOGAT2, MORC2, MOXD1, MPND, MPP1, MPP3, MPP6, MPPE1, MPRIP, MRFAP1, MROH2B, MROH7, MRPL54, MRPL55, MRPS12, MRPS21, MRPS26, MRPS34, MRS2, MS4A1, MS4A14, MS4A4A, MSH5, MSLN, MST1, MST1R, MTAP, MTRR, MUC12, MUC13, MUC17, MUC2, MUC21, MUC5AC, MUC5B, MUC6, MUM1, MVB12B, MVD, MVP, MYBBP1A, MYBPC2, MYBPC3, MYH1, MYH10, MYO10, MYO7A, MYO9A, MYO9B, MYOM1, MYOM2, MYPN, N4BP2L2, NAA40, NADK2, NAGPA, NANOGNB, NAPA, NARFL, NAT10, NAV1, NBAS, NCAN, NCAPD2, NCLN, NCOR1, NCR3, NCR3LG1, NDC80, NDEL1, NDRG4, NDUFA10, NDUFA11, NDUFA13, NDUFA4L2, NDUFA9, NDUFB10, NDUFS6, NDUFS7, NDUFV2, NDUFV3, NEB, NEDD9, NELFCD, NELL2, NEU1, NEURL4, NF1, NFASC, NFAT5, NFATC3, NFE2L2, NFKB2, NFKBIE, NHLRC1, NID1, NIF3L1, NIN, NINL, NIPA2, NISCH, NKD2, NLGN2, NLGN3, NLRC4, NLRC5, NLRP1, NLRP12, NLRP13, NLRP2, NLRP3, NLRP4, NLRP5, NLRP6, NLRP7, NLRP9, NME8, NMI, NNT, NOL10, NOL6, NOL7, NOL9, NOMO3, NOP14, NOP56, NOTCH4, NPC1L1, NPHP4, NPIPB15, NPR3, NPRL3, NQO1, NR1I3, NR2C2, NR4A1, NRBP1, NRN1, NRP2, NRXN3, NSUN2, NTHL1, NTRK3, NUB1, NUP133, NUP153, NXPH4, NYNRIN, OBSCN, OC90, OCEL1, ODF2, ODF3, ODF3L2, OMG, OPRK1, OR10A2, OR10J3, OR13C8, OR13J1, OR1C1, OR1F1, OR2H2, OR2S2, OR2T8, OR4F17, OR4N2, OR4S1, OR51B4, OR52I2, OR5A1, OR5H15, OR6C6, OR6J1, OR6K2, OR7D4, OR8B8, OR8H3, ORAI3, ORC2, ORMDL2, OSBP2, OSBPL5, OSGEP, OSMR, OTOF, OTOG, OTOL1, OXCT1, P2RX1, PABPC1L2A, PACS1, PAF1, PAFAH2, PAIP1, PAK1, PAK2, PAK6, PALM, PALMD, PAN2, PAN3, PANK3, PARP14, PATL1, PAX2, PAX5, PBRM1, PBX2, PC, PCDH12, PCDHB8, PCDHGA10, PCDHGA11, PCDHGB6, PCDHGC3, PCDHGC5, PCID2, PCMTD2, PCNXL2, PCNXL3, PCSK4, PCYT1A, PDCD11, PDCD1LG2, PDDC1, PDE4A, PDE6A, PDE6C, PDE8A, PDGFRA, PDGFRB, PDLIM7, PDPR, PDZD2, PDZD8, PEAK1, PEG3, PELI3, PER1, PER3, PEX1, PEX11G, PEX5, PFKP, PGA5, PGD, PGM2, PGM2L1, PGP, PGR, PHACTR1, PHC2, PHKG2, PHLDB3, PHLPP2, PHRF1, PHYH, PI4KB, PIAS3, PIAS4, PIDD, PIEZO2, PIGO, PIGQ, PIK3AP1, PIK3C2B, PIK3R2, PIK3R4, PINLYP, PIRT, PITPNM2, PIWIL1, PIWIL2, PKD1, PKD1L1, PKD1L2, PKD2L1, PKDCC, PKMYT1, PKN2, PKN3, PKP3, PLA2G4E, PLB1, PLCD4, PLCG2, PLCXD3, PLD2, PLD3, PLEC, PLEKHA7, PLEKHG4B, PLEKHG5, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLIN5, PLK5, PLOD3, PLXDC1, PLXNA2, PLXNA3, PLXNB2, PMEL, PMS1, PMS2, PNPLA2, PNPLA5, PNPLA6, POGZ, POLB, POLD1, POLE, POLE2, POLH, POLM, POLR1E, POLR2A, POLR2E, POLR2L, POLR3E, POLRMT, POMGNT1, POMT1, POMT2, POTEC, POTEM, POU2F3, POU5F1, PPAP2C, PPFIA4, PPIP5K1, PPM1N, PPP1R10, PPP1R12A, PPP1R12B, PPP1R12C, PPP1R13L, PPP1R18, PPP1R1A, PPP1R3G, PPP2R1A, PPP2R3B, PPP2R5C, PPP2R5D, PPRC1, PRAMEF18, PRCC, PRDM1, PRDM9, PREX1, PRICKLE3, PRKG1, PROM1, PROM2, PRPF3, PRPF31, PRPF4B, PRPF6, PRPF8, PRPSAP1, PRPSAP2, PRR14L, PRR25, PRRT3, PRSS12, PRSS27, PRSS3, PRSS57, PRUNE, PSG1, PSG8, PSG9, PSKH1, PSMC3, PSMD13, PSMD6, PSMD8, PSME4, PSMG4, PTBP1, PTBP3, PTGER1, PTGES2, PTGES3L-AARSD1, PTGR1, PTH1R, PTK6, PTPN12, PTPN14, PTPN23, PTPN6, PTPN7, PTPRD, PTPRG, PTPRM, PTPRN2, PTPRR, PTPRS, PTPRT, PTTG1IP, PVR, PVRL2, PXDC1, PXN, PYGB, PYROXD2, PZP, QSER1, QSOX1, RAB11FIP2, RAB1B, RABL5, RAD51AP1, RAD54L2, RAI14, RALGAPB, RANBP1, RANBP3L, RAPGEF3, RAPGEF5, RASGRF1, RASGRP4, RASSF7, RBL1, RBM15B, RBM20, RBM22, RBM23, RBM25, RCC1, RDH5, RECK, RELN, RET, REXO1, REXO1L1P, RFPL4AL1, RFX7, RGPD1, RGPD4, RHBDL1, RHOF, RHOT2, RHPN1, RIC8A, RICTOR, RIMBP3, RIMKLB, RIMS1, RIN1, RINT1, RIOK1, RIPK1, RNASE9, RND2, RNF10, RNF126, RNF168, RNF212, RNF26, RNH1, ROBO1, ROBO4, ROGDI, ROPN1L, RP11-113D6.10, RP11-1396O13.13, RP11-145E5.5, RP11-302B13.5, RP11-386G21.2, RP11-683L23.1, RP11-998D10.1, RPA1, RPAP1, RPH3A, RPL3L, RPL7A, RPL9, RPP40, RPTOR, RQCD1, RREB1, RSL1D1, RSPH6A, RSPO3, RTEL1-TNFRSF6B, RUFY2, RUNDC1, RUNDC3B, RUNX1T1, RUSC2, RYR2, SAA2, SACM1L, SBF2, SBNO2, SBP1, SCAF1, SCARA3, SCD, SCGB1A1, SCGB1C1, SCGN, SCN1B, SCN3A, SCYL3, SDHA, SDIM1, SEC14L5, SEC22A, SECISBP2L, SEH1L, SELE, SEMA3G, SEMA4G, SEMA5A, SEMA6A, SEMA6B, SEPP1, SEPT11, SERPINB6, SERPINB9, SERPINE1, SET, SETD2, SETD5, SF3B3, SFRP4, SFSWAP, SFTA2, SFXN4, SGCG, SGOL2, SGSM2, SH2D3A, SH2D6, SH3BP2, SH3GL1, SH3TC1, SH3YL1, SHB, SHC2, SHCBP1, SHD, SHMT2, SHPK, SHROOM4, SIDT1, SIGIRR, SIGLEC1, SIGLEC11, SIGLEC7, SIK3, SIN3B, SIPA1, SIPA1L3, SIRT5, SIRT6, SKIV2L, SKP2, SLC10A4, SLC11A1, SLC12A3, SLC12A6, SLC12A7, SLC13A5, SLC16A14, SLC16A3, SLC17A2, SLC17A3, SLC17A4, SLC1A1, SLC1A3, SLC22A12, SLC22A13, SLC22A18AS, SLC22A6, SLC24A2, SLC25A2, SLC25A23, SLC25A42, SLC25A44, SLC27A1, SLC27A2, SLC2A13, SLC2A5, SLC34A2, SLC35B2, SLC38A11, SLC39A14, SLC39A7, SLC41A1, SLC45A2, SLC51A, SLC5A10, SLC6A16, SLC6A18, SLC6A19, SLC6A5, SLC6A6, SLC9A3, SLC9A5, SLCO1A2, SLCO2A1, SLCO5A1, SLIT2, SMARCA4, SMCHD1, SMCO2, SMEK1, SMIM22, SMO, SMR3B, SMTNL1, SMTNL2, SMUG1, SNAP47, SNAPIN, SNRNP200, SNRNP48, SNTA1, SNUPN, SNX15, SNX33, SOBP, SOD2, SOGA1, SOGA2, SORBS3, SORD, SOWAHB, SPAG8, SPATA13, SPATA31A1, SPC24, SPDYE2, SPEF1, SPEF2, SPEN, SPHK2, SPINK4, SPOCK2, SPPL2C, SPRYD3, SPTA1, SPTBN4, SPTBN5, SPTLC3, SRCAP, SRD5A1, SRL, SRRM2, SSFA2, STAB1, STAB2, STAP2, STC1, STIM2, STK36, STMND1, STOX2, STX2, STXBP5L, SUCO, SULT1A1, SULT1A2, SUN1, SURF1, SURF6, SUV420H2, SVEP1, SYCP2, SYCP2L, SYNE2, SYNGAP1, SYT8, SYVN1, SZRD1, SZT2, TACC3, TADA3, TAF10, TAF3, TAF5, TAF6, TAF7, TAGLN3, TAOK2, TAP1, TAPBP, TARDBP, TAS1R2, TAS2R13, TBC1D20, TBC1D31, TBC1D32, TBCCD1, TBXA2R, TCEB2, TCF12, TCF19, TCF25, TCF3, TCHP, TCTE1, TDP2, TECPR1, TEK, TEKT1, TELO2, TENC1, TERT, TEX15, TEX2, TEX28P1, TF, TFR2, TFRC, TG, TGFBR3L, TGM5, THADA, THEG, THEM6, THOC1, TICAM1, TIMM10B, TJP3, TLE2, TLR10, TLR6, TLR7, TM4SF18, TMBIM6, TMC4, TMEM106A, TMEM120B, TMEM129, TMEM18, TMEM194A, TMEM200C, TMEM204, TMEM214, TMEM219, TMEM220, TMEM239, TMEM253, TMEM259, TMEM261, TMEM30B, TMEM57, TMEM63C, TMEM80, TMEM95, TMIGD2, TMOD3, TMPPE, TMPRSS11F, TMPRSS3, TMPRSS9, TNF, TNFAIP8L2, TNFRSF6B, TNFRSF8, TNFSF14, TNFSF9, TNK1, TNPO2, TNR, TNRC18, TNRC6C, TNS1, TNXB, TOM1, TOMM5, TOP1MT, TOP2A, TOP3A, TOPORS, TP53, TPD52L3, TPM2, TPMT, TPPP, TPPP2, TPR, TPSG1, TRAC, TRAF3, TRAK1, TRANK1, TRAPPC10, TRAPPC11, TRAPPC5, TRAT1, TRAV8-1, TRBV20OR9-2, TRDJ1, TRERF1, TRIM29, TRIM3, TRIM37, TRIM38, TRIM44, TRIM49B, TRIM6, TRIM6-TRIM34, TRIM66, TRIM67, TRIO, TRIOBP, TRIP13, TRIT1, TRMT6, TRMT61B, TRPC1, TRPM3, TRPM6, TRPM7, TRPV1, TRPV2, TSC1, TSC2, TSGA13, TSPAN11, TSPAN4, TSR3, TTC23L, TTC3, TTC38, TTC39B, TTC6, TTLL10, TTLL12, TTLL3, TTLL7, TTN, TTYH1, TUBA3C, TUBB, TUBB2A, TUBB4A, TUBB6, TUBGCP3, TULP2, TULP3, TUSC1, TUT1, TXNDC2, TXNL4B, TXNRD2, TYRO3, TYRP1, TYW5, U2AF2, UBA2, UBA7, UBAP2, UBE2G2, UBE2I, UBE2O, UBE2S, UBLCP1, UBN1, UBQLN4, UBR2, UBR5, UBTD1, UBXN6, UGT3A1, UHRF2, UNC79, UQCC2, USH1C, USP14, USP17L2, USP20, USP29, USP30, USP37, USP47, USP6, UTP20, UTP6, UTS2R, UVRAG, VARS, VARS2, VASH1, VCP, VIL1, VN1R2, VPS13B, VPS13C, VPS18, VPS39, VPS9D1, VRK3, VWA1, VWA3A, VWA5A, VWA7, VWA8, WARS2, WDR11, WDR13, WDR18, WDR19, WDR24, WDR5, WDR60, WDR66, WDR81, WDR90, WFIKKN1, WFS1, WHSC1L1, WIZ, WNT3A, WRNIP1, WSCD2, WT1, XG, XPO4, XRCC3, YARS, YES1, YTHDC2, ZAR1, ZBED4, ZBTB12, ZBTB14, ZBTB34, ZBTB41, ZBTB46, ZBTB5, ZBTB8B, ZC3H18, ZC3H3, ZC3H7B, ZCCHC11, ZCCHC3, ZCCHC7, ZDHHC11, ZDHHC11B, ZDHHC12, ZDHHC19, ZDHHC4, ZER1, ZFHX2, ZFP1, ZFPM1, ZFR, ZFR2, ZFYVE1, ZFYVE16, ZFYVE28, ZIC2, ZMAT4, ZMIZ2, ZMPSTE24, ZMYM2, ZMYM4, ZMYND11, ZNF106, ZNF131, ZNF143, ZNF148, ZNF160, ZNF225, ZNF283, ZNF286A, ZNF304, ZNF318, ZNF321P, ZNF331, ZNF343, ZNF414, ZNF416, ZNF418, ZNF419, ZNF44, ZNF444, ZNF461, ZNF473, ZNF483, ZNF518B, ZNF519, ZNF525, ZNF530, ZNF541, ZNF550, ZNF554, ZNF555, ZNF557, ZNF558, ZNF563, ZNF564, ZNF567, ZNF57, ZNF578, ZNF579, ZNF585A, ZNF587B, ZNF589, ZNF597, ZNF599, ZNF613, ZNF622, ZNF626, ZNF644, ZNF646, ZNF665, ZNF691, ZNF701, ZNF721, ZNF77, ZNF774, ZNF777, ZNF786, ZNF804A, ZNF816, ZNF823, ZNF862, ZNF880, ZNRF4, ZRANB3, ZSWIM8, ZZEF1,

Genes at Omim

A4GALT, AARS2, ABCA3, ABCA7, ABCC8, ACADS, ACTC1, ACTN1, ACTN2, ACVRL1, ADAM17, AGPS, AGRN, AGXT, AHCY, ALDH18A1, ALDH1A3, ALDH5A1, ALG3, ALOXE3, ALPL, AMACR, AMH, AMPD3, ANGPTL4, ANK1, ANKH, AP1S1, AP3D1, AP4E1, APPL1, AQP3, AQP7, ARID1A, ARMC5, ASPA, ASPM, ASS1, ATM, ATP2A1, ATXN1, AXIN2, BCL10, BCL7A, BEST1, BTD, BTNL2, C1GALT1C1, C2, C2orf71, C3, C4A, C6, C7, C9, C9orf72, CACNA1F, CACNA1H, CACNA1S, CACNA2D4, CAD, CALM1, CAMTA1, CAPN3, CASC5, CC2D2A, CCDC78, CCDC88A, CCDC88C, CCT5, CD151, CD2AP, CD81, CDKAL1, CECR1, CEL, CEP104, CERS1, CES1, CFHR5, CHD8, CHRNA3, CHRNB2, CHST3, CHSY1, CILP, CISH, CIT, CLCN7, CLDN16, CLPB, CNGB1, COCH, COG7, COL11A2, COL12A1, COL4A3BP, COL6A3, COMP, CRYAA, CSNK1D, CTC1, CUBN, CYBA, CYP21A2, CYP4F22, DARS2, DBH, DCDC2, DCHS1, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DLX4, DNA2, DNAH11, DNAH5, DNAI1, DNMT1, DOCK8, DPM2, DSP, DTNA, DTNBP1, DYNC1H1, DYRK1A, EARS2, ECE1, EEF1A2, EEF2, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERCC6, ERF, ERMAP, ESCO2, EXOSC3, EYS, F13A1, F13B, F2, F5, FAM134B, FAM20C, FAM65B, FAM83H, FAN1, FANCE, FARS2, FBN1, FCGR3A, FCGR3B, FGFR3, FIBP, FLNA, FLNC, FN1, FOLR1, FOXC1, FREM1, FRMPD4, FUT3, FUT6, FUZ, FYCO1, GALC, GARS, GAS8, GATM, GBA2, GCM2, GCNT2, GFI1B, GHR, GHRL, GIPC3, GK, GLDC, GLIS3, GNAL, GNAO1, GNMT, GPHN, GPR179, GPSM2, GPX4, GRHL3, GRHPR, GRK1, GUCY2C, GUF1, HBD, HERC1, HFE, HMCN1, HNF1B, HOXA13, HP, HPCA, HRAS, HUWE1, HYAL1, IBA57, IDH3B, IFITM3, IFNA1, IFNL3, IFT74, IL17RA, IL1B, IL2RA, IL7R, INF2, INSR, IRF6, IRF7, ITGB4, ITPR3, JAGN1, JAK2, JAK3, JUP, KANK1, KCNC3, KCNQ2, KDM1A, KDR, KIAA0319, KIAA1279, KIF1B, KIF22, KISS1R, KIT, KLF11, KLK1, KMT2A, KRT13, KRT2, KRT8, KRT9, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LARS2, LCAT, LDLR, LEF1, LIFR, LMNB2, LMO2, LRP4, LRPAP1, LRTOMT, LTA, LTBP4, MAD1L1, MAK, MAP2K2, MGAT2, MLYCD, MMP3, MOCOS, MORC2, MS4A1, MST1R, MTAP, MTRR, MUC5B, MVD, MYBPC3, MYO7A, MYO9B, MYPN, NADK2, NBAS, NCR3, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NDUFV2, NEB, NEU1, NF1, NFKB2, NHLRC1, NIN, NLGN3, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NNT, NOP56, NPC1L1, NPHP4, NPR3, NPRL3, NQO1, NSUN2, NTHL1, OSMR, OTOF, OTOG, OXCT1, P2RX1, PACS1, PAX2, PAX5, PC, PCYT1A, PDE6A, PDE6C, PDGFRA, PDGFRB, PER3, PEX1, PEX5, PGR, PHKG2, PHYH, PIEZO2, PIGO, PIK3R2, PKD1, PLCG2, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POGZ, POLD1, POLH, POMGNT1, POMT1, POMT2, PPP2R1A, PPP2R5D, PRCC, PRKG1, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRSS12, PTPN12, PTPN14, RBM20, RDH5, RELN, RET, RIMS1, RNF168, RNF212, ROGDI, RYR2, SBF2, SCN1B, SDHA, SELE, SERPINB6, SETD2, SETD5, SFRP4, SFXN4, SGCG, SH3BP2, SH3GL1, SHROOM4, SIPA1L3, SKIV2L, SLC12A3, SLC12A6, SLC13A5, SLC17A3, SLC1A1, SLC1A3, SLC22A12, SLC34A2, SLC39A14, SLC45A2, SLC6A19, SLC6A5, SLC9A3, SLCO2A1, SMARCA4, SMCHD1, SNRNP200, SNTA1, SOBP, SOD2, SORD, SPTA1, SRCAP, SURF1, SYNE2, SYNGAP1, SZT2, TAF6, TAP1, TAPBP, TARDBP, TBC1D20, TBXA2R, TCF12, TCF3, TDP2, TEK, TELO2, TERT, TF, TFR2, TFRC, TG, TGM5, TICAM1, TMPRSS3, TNF, TNXB, TOP2A, TOPORS, TP53, TPM2, TPMT, TRAC, TRAF3, TRAPPC11, TRIM37, TRIM44, TRIO, TRIOBP, TRPM6, TRPM7, TSC1, TSC2, TTN, TUBB, TUBB2A, TUBB4A, TYRP1, UQCC2, USH1C, VARS2, VCP, VIL1, VPS13B, VPS13C, WDR11, WDR19, WDR60, WDR81, WFS1, WHSC1L1, WT1, XG, XRCC3, 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)
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (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)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (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)
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (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)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
AP1S1 MEDNIK syndrome, 609313 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (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)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPA Canavan disease, 271900 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ASS1 Citrullinemia, 215700 (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)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (3)
C2 C2 deficiency, 217000 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (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)
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)
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)
CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CCDC88A PEHO syndrome, 260565 (3)
CCDC88C ?Spinocerebellar ataxia 40, 616053 (3)
Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (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)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (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)
CISH {Bacteremia, susceptibility to}, 614383 (3)
{Malaria, susceptibility to}, 611162 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (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)
CRYAA Cataract 9, multiple types, 604219 (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)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (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)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (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)
ERF Craniosynostosis 4, 600775 (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)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (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)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAM20C Raine syndrome, 259775 (3)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (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)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FLNA Cardiac valvular dysplasia, X-linked, 314400 (3)
Congenital short bowel syndrome, 300048 (3)
FG syndrome 2, 300321 (3)
Frontometaphyseal dysplasia 1, 305620 (3)
Heterotopia, periventricular, 300049 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
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)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ Neural tube defects, 182940 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GALC Krabbe disease, 245200 (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)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (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)
GK Glycerol kinase deficiency, 307030 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GNAL Dystonia 25, 615073 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
GNMT Glycine N-methyltransferase deficiency, 606664 (3)
GPHN Molybdenum cofactor deficiency C, 615501 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRK1 Oguchi disease-2, 613411 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (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)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (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)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (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)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (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)
IRF7 ?Immunodeficiency 39, 616345 (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)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (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)
KISS1R ?Precocious puberty, central, 1, 176400 (3)
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (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)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB1 Lissencephaly 5, 615191 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LCAT Fish-eye disease, 136120 (3)
Norum disease, 245900 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LEF1 Sebaceous tumors, somatic (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)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LRTOMT Deafness, autosomal recessive 63, 611451 (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)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (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)
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)
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)
NDUFV2 Mitochondrial complex I deficiency, 252010 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (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)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NIN ?Seckel syndrome 7, 614851 (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)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NLRP3 CINCA syndrome, 607115 (3)
Familial cold-induced inflammatory syndrome 1, 120100 (3)
Muckle-Wells syndrome, 191900 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (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)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (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)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PC Pyruvate carboxylase deficiency, 266150 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (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)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
PGR ?Progesterone resistance, 264080 (2)
PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency (3)
Glycogen storage disease IXc, 613027 (3)
PHYH Refsum disease, 266500 (3)
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)
POGZ White-Sutton syndrome, 616364 (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)
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)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
PTPN12 Colon cancer, somatic, 114500 (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)
RIMS1 Cone-rod dystrophy 7, 603649 (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)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (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)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SELE [Blood pressure regulation QTL], 145500 (2)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SFRP4 Pyle disease, 265900 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SH3BP2 Cherubism, 118400 (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)
SLC12A3 Gitelman syndrome, 263800 (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)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (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)
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)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SORD ?Cataract, congenital (2)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (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)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TAPBP 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)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (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)
TOPORS Retinitis pigmentosa 31, 609923 (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)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
TRIM37 Mulibrey nanism, 253250 (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)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (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)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (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)
XRCC3 {Breast cancer, susceptibility to}, 114480 (3)
{Melanoma, cutaneous malignant, 6}, 613972 (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, AARS2, ABCA3, ABCC8, ACADS, ACTC1, ACTN1, ACTN2, ACVRL1, ADAM17, AGPS, AGRN, AGXT, AHCY, ALDH18A1, ALDH1A3, ALDH5A1, ALG3, ALOXE3, ALPL, AMACR, AMH, AMPD3, ANK1, ANKH, AP1S1, AP4E1, APPL1, AQP3, ARID1A, ARMC5, ASPA, ASPM, ASS1, ATM, ATP2A1, ATP6V1B1, ATXN1, AXIN2, BCAM, BCL10, BEST1, BTD, C2, C3, C4A, C6, C7, C9, CACNA1F, CACNA1S, CACNA2D4, CAD, CALM1, CAMTA1, CAPN3, CC2D2A, CCDC14, CCDC88C, CCT5, CD151, CD27, CD2AP, CD81, CECR1, CEL, CERS1, CES1, CHD8, CHRNB2, CHST3, CHSY1, CLCN7, CLDN16, CLPB, CNGB1, COCH, COG7, COL11A2, COL12A1, COL4A3BP, COL6A3, COMP, CRYAA, CSNK1D, CTC1, CUBN, CYBA, CYP21A2, CYP4F22, DARS2, DBH, DCDC2, DCHS1, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DLX4, DNA2, DNAH1, DNAH11, DNAH5, DNAI1, DNMT1, DOCK8, DPM2, DSP, DTNA, DTNBP1, DYNC1H1, DYRK1A, EARS2, ECE1, EEF1A2, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERCC6, ERF, ERMAP, ESCO2, EXOSC3, EYS, F13A1, F13B, F2, F5, FAM134B, FAM20C, FAM65B, FAM83H, FAN1, FANCE, FARS2, FBN1, FCGR3A, FERMT1, FERMT3, FGFR3, FLNA, FLNC, FN1, FOLR1, FOXC1, FREM1, FUT3, FUT6, FUZ, FYCO1, GALC, GARS, GAS8, GATM, GBA2, GCM2, GCNT2, GFI1B, GHR, GIPC3, GK, GLDC, GLIS3, GNAL, GNAO1, GNMT, GPHN, GPR179, GPSM2, GPX4, GRHL3, GRHPR, GRIK4, GRK1, GUCY2C, HFE, HMCN1, HNF1B, HOXA13, HP, HPCA, HRAS, HUWE1, HYAL1, IBA57, IDH3B, IFNL3, IL17RA, IL2RA, IL7R, INF2, INSR, IRF6, IRF7, ITGB4, JAGN1, JAK2, JAK3, JUP, KANK1, KCNC3, KCNQ2, KDM1A, KIAA0556, KIF1B, KIF22, KISS1R, KIT, KLF11, KMT2A, KRT13, KRT2, KRT9, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LARS2, LCAT, LDLR, LIFR, LMNB2, LRP1, LRP4, LRPAP1, LRTOMT, LTBP4, MAK, MAP2K2, MGAT2, MLYCD, MORC2, MS4A1, MTAP, MTRR, MVD, MYBPC3, MYO7A, MYPN, NADK2, NBAS, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NDUFV2, NEB, NEU1, NF1, NFKB2, NHLRC1, NIN, NLGN3, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NNT, NOP56, NPC1L1, NPHP4, NTHL1, OSMR, OTOF, OTOG, OXCT1, PACS1, PAX2, PAX5, PBRM1, PC, PCYT1A, PDE6A, PDE6C, PDGFRA, PDGFRB, PER3, PEX1, PEX5, PHKG2, PHYH, PIEZO2, PIGO, PIK3R2, PKD1, PLCG2, PLEC, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POGZ, POLD1, POLE, POLH, POMGNT1, POMT1, POMT2, PPP2R1A, PPP2R5D, PRKG1, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRSS12, PTH1R, PTPN14, RBM20, RDH5, RELN, RET, RIMS1, RNF168, ROGDI, RYR2, SBF2, SCN1B, SDHA, SERPINB6, SERPINE1, SETD2, SETD5, SFXN4, SGCG, SH3BP2, SHROOM4, SIPA1L3, SKIV2L, SLC12A3, SLC12A6, SLC13A5, SLC1A1, SLC1A3, SLC22A12, SLC34A2, SLC41A1, SLC45A2, SLC6A19, SLC6A5, SLCO2A1, SMARCA4, SMCHD1, SNRNP200, SNTA1, SOBP, SPTA1, SRCAP, SURF1, SYNE2, SYNGAP1, SZT2, TAP1, TAPBP, TARDBP, TBC1D20, TBXA2R, TCF12, TCF3, TDP2, TEK, TERT, TF, TFR2, TFRC, TG, TGM5, TICAM1, TMPRSS3, TNXB, TOPORS, TP53, TPM2, TPMT, TRAC, TRAF3, TRAPPC11, TRIM37, TRIOBP, TRPM6, TSC1, TSC2, TTN, TUBB, TUBB2A, TUBB4A, TYRP1, UQCC2, USH1C, VARS2, VCP, VPS13B, VPS13C, VPS39, WDR11, WDR19, WDR60, WDR81, WFS1, WT1, XG, YARS, ZIC2, ZMPSTE24, ZMYND11, ZNF644,
A4GALT Blood group, P system
AARS2 Leukoencephalopathy, progressive, with ovarian failure
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
ACTN2 Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
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
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ALDH1A3 Microphthalmia, isolated 8
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
AMH Persistent Mullerian duct syndrome, type I
AMPD3 Erythrocytic AMP deaminase deficiency
ANK1 Spherocytosis, hereditary 1
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
AQP3 Blood group, GIL
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPA Aspartoacylase deficiency (Canavan disease)
ASPM Microcephaly, primary autosomal recessive, 5
ASS1 Citrullinemia
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
ATP2A1 Brody myopathy
ATP6V1B1 Renal tubular acidosis with deafness
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
C2 Complement component 2 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
CACNA1F Night blindness, congenital stationary, X-linked, type 2A
Cone-rod dystrophy, X-linked, 3
Aland Island eye disease
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
CAPN3 Eosinophilic myositis
Muscular dystrophy, limb-girdle, type 2A
CC2D2A COACH syndrome
Meckel syndrome 6
Joubert syndrome 9
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC88C Spinocerebellar ataxia 40
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
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
CHD8 Autism, susceptibility to 18
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHSY1 Temtamy preaxial brachydactyly syndrome
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CLDN16 Hypomagnesemia 3, renal
CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
CNGB1 Retinitis pigmentosa 45
COCH Deafness, autosomal dominant 9
COG7 Congenital disorder of glycosylation, type IIe
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
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
CRYAA Cataract 9, multiple types
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
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBH Dopamine beta-hydroxylase deficiency
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
EARS2 Combined oxidative phosphorylation deficiency 12
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
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
ERF Craniosynostosis 4
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
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM65B Deafness, autosomal recessive 104
FAM83H Amelogenesis imperfecta, type 3
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
FERMT1 Kindler syndrome
FERMT3 Leukocyte adhesion deficiency, type III
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FLNA Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
Heterotopia, periventricular, Ehlers-Danlos variant
Cardiac valvular dysplasia, X-linked
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
FN1 Glomerulopathy with fibronectin deposits 2
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
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
FYCO1 Cataract, autosomal recessive congenital 2
GALC Krabbe disease
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
GCNT2 Cataract 13 with adult i phenotype
Adult i phenotype without cataract
Blood group, Ii
GFI1B Bleeding disorder, platelet-type, 17
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GIPC3 Deafness, autosomal recessive 15
GK Glycerol kinase deficiency
GLDC Glycine encephalopathy
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNAL Primary torsion dystonia
GNAO1 Epileptic encephalopathy, early infantile, 17
GNMT Glycine N-methyltransferase deficiency
GPHN Molybdenum cofactor deficiency, type C
Hyperekplexia, autosomal dominant
GPR179 Night blindness, congenital stationary, type 1E
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GRHL3 van der Woude syndrome 2
GRHPR Hyperoxaluria, primary, type II
GRIK4 Response to antidepressant treatment with citalopram
GRK1 Oguchi disease 2
GUCY2C Meconium ileus
Diarrhea 6
HFE Hemochromatosis
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
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
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
IRF6 Orofacial cleft 6
van der Woude syndrome 1
Popliteal pterygium syndrome
IRF7 Immunodeficiency 39
ITGB4 Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
JAGN1 Neutropenia, severe congenital, 6
JAK2 Thrombocythemia 3
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNC3 Spinocerebellar ataxia 13
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features
KIAA0556 Joubert syndrome 26
KIF1B Pheochromocytoma
Neuroblastoma, susceptibility to
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
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
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LAMB1 Lissencephaly 5
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
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
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LRPAP1 Myopia 23, autosomal recessive
LRTOMT Deafness, autosomal recessive 63
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAK Retinitis pigmentosa 62
MAP2K2 Cardiofaciocutaneous syndrome
MGAT2 Congenital disorder of glycosylation, type IIa
MLYCD Malonyl-CoA decarboxylase deficiency
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MS4A1 Immunodeficiency, common variable, 5
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
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
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
NDUFV2 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NEU1 Sialidosis, type II
Sialidosis, type I
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NFKB2 Immunodeficiency, common variable, 10
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NIN Seckel syndrome 7
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
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP3 Muckle-Wells syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
NLRP7 Hydatidiform mole, recurrent, 1
NME8 Ciliary dyskinesia, primary, 6
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
PAX2 Papillorenal syndrome
Isolated renal hypoplasia
PAX5 Pre-B cell acute lymphoblastic leukemia
PBRM1 Clear cell renal cell carcinoma
PC Pyruvate carboxylase deficiency
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6A Retinitis pigmentosa 43
PDE6C Cone dystrophy 4
PDGFRA Gastrointestinal stromal tumor
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
PEX5 Rhizomelic chondrodysplasia punctata, type 5
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Peroxisome biogenesis disorder, 5
PHKG2 Glycogen storage disease IXc
PHYH Refsum disease
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
POGZ Mental retardation, autosomal dominant 37 (White-Sutton 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
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PPP2R1A Mental retardation, autosomal dominant 36
PPP2R5D Mental retardation, autosomal dominant 35
PRKG1 Aortic aneurysm, familial thoracic 8
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRPF3 Retinitis pigmentosa 18
PRPF31 Retinitis pigmentosa 11
PRPF6 Retinitis pigmentosa 60
PRPF8 Retinitis pigmentosa 13
PRSS12 Mental retardation, autosomal recessive 1
PTH1R Failure of tooth eruption, primary
Metaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type
Eiken syndrome
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
RIMS1 Cone-rod dystrophy 7
RNF168 RIDDLE syndrome
ROGDI Kohlschutter-Tonz syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SERPINB6 Deafness, autosomal recessive 91
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SETD2 Luscan-Lumish syndrome
SETD5 Mental retardation, autosomal dominant 23
SFXN4 Combined oxidative phosphorylation deficiency 18
SGCG Muscular dystrophy, limb-girdle, type 2C
SH3BP2 Cherubism
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SIPA1L3 Cataract 45
SKIV2L Trichohepatoenteric syndrome 2
SLC12A3 Gitelman syndrome
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC1A1 Dicarboxylic aminoaciduria
SLC1A3 Episodic ataxia, type 6
SLC22A12 Hypouricemia, renal 1
SLC34A2 Pulmonary alveolar microlithiasis
SLC41A1 Nephronophthisis-like ciliopathy
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SLC6A5 Hyperekplexia 3
SLCO2A1 Primary hypertrophic osteoarthropathy
Hypertrophic osteoarthropathy, primary, autosomal recessive 2
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SNRNP200 Retinitis pigmentosa 33
SNTA1 Long QT syndrome 12
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
SRCAP Floating-Harbor syndrome
SURF1 Leigh syndrome
Charcot-Marie-Tooth disease type 4K
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
TAPBP 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
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TOPORS Retitinis pigmentosa 31
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
TPMT Thiopurine S-methyltransferase deficiency
TRAC T-cell receptor-alpha/beta deficiency
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM37 Mulibrey nanism
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
USH1C Deafness, autosomal recessive 18A
Usher syndrome, type IC
VARS2 Combined oxidative phosphorylation deficiency 20
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
VPS13B Cohen syndrome
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia
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
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
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: 120862
Number of Genes: 2196

Export to: CSV

A3GALT2

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 1 . 33772682 47273.56 T C PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT -0.29 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 22 . 43089379 686.51 T G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AADACL4

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 1 . 12726103 4068.3 G A PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.67 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 44272456 4255.87 C G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 44272822 7310.76 C T PASS 1/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None

AATK

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 17 . 79094391 696.2 A G PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 79094279 385.98 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.06 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 17 . 67161161 9345.42 A T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 0.03 None None None None None None None

ABCA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 2328295 751.35 C T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1064194 7257.75 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1042810 39128.36 A G PASS 0/1 53 SYNONYMOUS_CODING LOW 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047003 7220.97 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047162 17063.54 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1049306 21667.3 C A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1052006 24777.56 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1054061 62830.57 A G PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1055192 11689.56 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT -0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056066 22026.76 A G PASS 1/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056228 3207.57 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1065019 5077.69 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.43 -1.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056422 2889.57 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056493 49498.78 G C PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT -1.16 None None None None None None None

ABCB8

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 7 . 150742412 96258.55 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150741073 12026.59 T G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150737384 284.24 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ABCC1

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 16 . 16173222 87529.26 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762204 1220.63 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762128 756.52 G A PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

ABCC5

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 3 . 183643358 316.35 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 183643468 1152.62 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None None None None None None None

ABCC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 17416763 953.11 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 17498317 6920.35 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.18 None None None None None None None

ABCG4

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 . 119024976 16786.46 C T PASS 0/1 76 SYNONYMOUS_CODING LOW 1.95 None None rs8192696 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 119027609 7331.3 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.78 None None None None None None None

ABHD15

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 17 . 27893329 198.19 G T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

ABHD17A

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 19 . 1880951 44774.65 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT -2.03 None None None None None None None

ABHD8

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 19 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 17403631 33773.05 G C PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49 0.02 None None None None None None None

AC024592.12

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 19 . 5867737 44832.67 G T PASS 1/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.22 None None None None None None None

AC025278.1

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 19 . 7012015 151.82 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.10 None None None None None None None

AC026703.1

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 5 . 32789746 98255.74 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

AC079354.1

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 . 202955552 9495.22 T C PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

AC079612.1

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 . 240500392 3590.35 C A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 240500603 26101.67 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AC104809.3

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 . 241871857 4936.03 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57 0.00 1.32 None None None None None None None

AC105020.1

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 15 . 75971117 78.51 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

AC126614.1

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 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

AC135178.1

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 17 . 8263060 148757.78 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None

ACAD11

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 3 . 132350184 12606.13 CAAG C PASS 0/1 9 CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION MODERATE None None None None None None None

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 121177227 800.63 T C PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACAP1

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 17 . 7251263 1613.9 T C PASS 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7247233 77667.15 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None None None None None None None

ACER1

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 19 . 6312279 14714.28 T C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.09 None None None None None None None

ACER2

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 . 19450600 14215.35 G C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.02 None None None None None None None

ACKR2

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 3 . 42906284 1081.81 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.51 None None None None None None None

ACO1

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 . 32448907 434.63 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 32450045 5591.57 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 32448961 16076.36 T G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

ACOT11

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 1 . 55096452 44429.04 G T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.67 None None None None None None None

ACOT4

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 14 . 74060500 41906.4 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT 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 rs11553746
dbSNP
272203 19369.17 C T PASS 0/1 86 None None None 0.24341 0.24340 0.28541 1.29 None None None None None None None
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

ACSBG1

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 15 . 78501579 334.53 C T PASS 0/1 11 None None None None None None None None None None

ACSBG2

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 19 . 6156472 284867.99 T C PASS 1/1 58 SYNONYMOUS_CODING LOW -0.15 None None None None None None None

ACSM2A

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 16 . 20486757 142596.06 T G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480994 20811.76 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480982 25138.76 A T PASS 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None

ACSM2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM5

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 16 . 20441019 2347.52 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACTC1

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 15 . 35084632 8204.57 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 0.17 None None None None None None None

ACTN1

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 14 . 69341671 993.63 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.63 None None None None None None None

ACTN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 236897756 32931.25 A C PASS 1/1 11 None None None 0.00 1.00 None None None None None None None

ACTR5

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 20 . 37384614 959.84 A G PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs772679338
dbSNP
37384620 1021.57 A G PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.60 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37384622 937.31 A G PASS 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37394136 23182.82 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94 0.00 None None None None None None None

ACVRL1

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 12 . 52314636 6082.04 G A PASS 0/1 41 SYNONYMOUS_CODING LOW -0.35 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52306316 64917.8 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93 0.00 None None None None None None None

ADAM15

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 1 . 155029453 46202.71 T C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 155034817 31846.75 C T PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 155034826 29629.85 C A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None

ADAM17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 9630460 956.07 G GC... PASS 0/1 63 CODON_INSERTION MODERATE None None None None None None None

ADAM33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 3660176 7261.63 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS12

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 5 . 33642058 4566.37 G A PASS 0/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33649800 24156.11 G A PASS 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33649702 68804.11 C A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596088 66982.23 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596119 55239.23 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596138 48751.23 C T PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33637786 56636.02 C A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs760147804
dbSNP
33637794 51827.5 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33643512 56300.11 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None

ADAMTS16

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 5 . 5140845 4080.2 T A PASS 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146282 55555.32 A G PASS 0/1 72 SYNONYMOUS_CODING LOW -1.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140857 4221.66 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146264 122106.14 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.81 1.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5303501 11395.2 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None