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Genes:
AADACL3, ABCA4, ABCB10, ABCD3, AC092811.1, AC096644.1, AC119673.1, ACADM, ACAP3, ACP6, ACTL8, ACTN2, ACTRT2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCK3, ADCY10, ADORA3, AGBL4, AGL, AGMAT, AGO4, AGRN, AGT, AHCTF1, AHDC1, AIDA, AIM1L, AJAP1, AK5, AKNAD1, AKR1A1, AKR7A3, AKR7L, AL020996.1, AL136115.1, AL590822.1, AL627309.1, AL645730.2, ALDH4A1, ALDH9A1, ALG6, ALPL, AMPD1, AMPD2, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APITD1-CORT, APOA1BP, APOBEC4, AQP10, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARID1A, ARID4B, ARNT, ARPC5, ARTN, ASAP3, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF6, ATP13A2, ATP1A2, ATP1A4, ATP2B4, ATP6V1G3, ATP8B2, ATPAF1, ATPIF1, AURKAIP1, BATF3, BCAN, BCAR3, BCL2L15, BCL9, BEND5, BMP8A, BMP8B, BNIPL, BPNT1, BRDT, C1ORF220, C1orf105, C1orf106, C1orf109, C1orf111, C1orf112, C1orf116, C1orf141, C1orf147, C1orf158, C1orf159, C1orf167, C1orf170, C1orf172, C1orf173, C1orf174, C1orf177, C1orf195, C1orf198, C1orf204, C1orf210, C1orf213, C1orf222, C1orf227, C1orf53, C1orf63, C1orf65, C1orf68, C1orf86, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA6, CACHD1, CACNA1E, CACNA1S, CADM3, CALML6, CAMK1G, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CASP9, CASQ2, CASZ1, CATSPER4, CCDC17, CCDC18, CCDC181, CCDC27, CCSAP, CD101, CD34, CD48, CD52, CDA, CDC20, CDC42BPA, CDC7, CDCP2, CDK11A, CDK11B, CDK18, CELA2A, CELA2B, CELA3A, CELA3B, CELSR2, CENPF, CEP104, CEP170, CEP350, CEP85, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CITED4, CLCA1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLSPN, CMPK1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COL11A1, COL16A1, COL24A1, COL9A2, COPA, CPSF3L, CPT2, CR1, CR1L, CR2, CRB1, CRCT1, CRNN, CROCC, CRP, CRYZ, CSF1, CSF3R, CSMD2, CTBS, CTH, CTSE, CTSK, CTSS, CTTNBP2NL, CYP4A11, CYP4A22, CYP4B1, CYP4Z1, DARC, DBT, DCAF6, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DENND1B, DENND2D, DHCR24, DHDDS, DHRS3, DHX9, DIEXF, DISC1, DISP1, DLEU2L, DMBX1, DMRTA2, DNAH14, DNAJC11, DNAJC16, DNAJC6, DNASE2B, DNM3, DNTTIP2, DPYD, DSTYK, DTL, DUSP27, DVL1, E2F2, EBNA1BP2, ECHDC2, ECM1, EDARADD, EDEM3, EFCAB7, EFHD2, EFNA1, EFNA3, EGLN1, EIF2D, EIF4G3, ELAVL4, ELF3, ELTD1, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPRS, EPS15, EPS8L3, ERI3, ERO1LB, ERRFI1, ESPN, ETV3L, EVI5, EXO1, EXO5, EXOSC10, EXTL1, F3, F5, FAAH, FAM129A, FAM131C, FAM151A, FAM177B, FAM19A3, FAM212B, FAM231D, FAM46B, FAM63A, FAM71A, FAM78B, FBXO2, FBXO42, FBXO44, FBXO6, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCN3, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FGGY, FHAD1, FHL3, FLG, FLG2, FLVCR1, FMN2, FMO2, FMO3, FMO5, FMO6P, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, GABRD, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GFI1, GIPC2, GJA4, GJA9, GLIS1, GLRX2, GLTPD1, GLUL, GNAT2, GNG4, GNL2, GNPAT, GORAB, GPA33, GPATCH2, GPATCH4, GPN2, GPR153, GPR161, GPR37L1, GPX7, GRHL3, GRIK3, GSTM3, GSTM4, GTF2B, GUCA2A, H6PD, HAO2, HCRTR1, HDGF, HEATR1, HES2, HES4, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIST3H3, HIVEP3, HLX, HMCN1, HMGB4, HMGCL, HNRNPCL1, HORMAD1, HPCAL4, HRNR, HS2ST1, HSD3B1, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IBA57, ICMT, ID3, IER5, IFI16, IFI44, IFI44L, IFNLR1, IGFN1, IGSF3, IKBKE, IL12RB2, IL19, IL22RA1, IL23R, IL6R, INADL, INPP5B, INSL5, INSRR, IPO13, IQGAP3, IRF2BP2, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN2, ITPKB, IVL, JAK1, JMJD4, KANK4, KAZN, KCNA10, KCNAB2, KCNH1, KCNK1, KCNN3, KCNQ4, KCNT2, KCTD3, KDM4A, KDM5B, KIAA0040, KIAA0319L, KIAA1107, KIAA1324, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIRREL, KLF17, KLHDC7A, KLHL17, KMO, KPRP, L1TD1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR5, LAPTM5, LBR, LCE1C, LCE1E, LCE1F, LCE2D, LCE3D, LCE4A, LCE5A, LDLRAD2, LDLRAP1, LEFTY1, LEPR, LEPRE1, LGALS8, LGR6, LMNA, LMX1A, LOR, LPHN2, LPPR5, LRIF1, LRIG2, LRP8, LRRC38, LRRC52, LRRC53, LRRC71, LRRC8B, LRRC8C, LRRIQ3, LRRN2, LUZP1, LY9, LYPLAL1, LYST, LZIC, MACF1, MAN1A2, MAN1C1, MAP10, MAP3K6, MAP7D1, MAPKAPK2, MARC1, MASP2, MAST2, MATN1, MCOLN3, MECR, MEF2D, MEGF6, METTL11B, METTL13, MFAP2, MIA3, MIB2, MIIP, MINOS1, MKNK1, MMACHC, MMEL1, MNDA, MOB3C, MOV10, MPC2, MROH7, MROH9, MRPL20, MRPL37, MRPL55, MRPL9, MRPS15, MRTO4, MSH4, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MXRA8, MYBPH, MYBPHL, MYCL, MYOC, MYOM3, MYSM1, NADK, NASP, NAV1, NBPF1, NBPF10, NBPF12, NBPF14, NBPF16, NBPF20, NBPF3, NBPF9, NCF2, NEGR1, NEK2, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NID1, NIPAL3, NLRP3, NME7, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NL, NPHP4, NPL, NPR1, NR5A2, NRD1, NSL1, NSUN4, NTNG1, NTRK1, NUAK2, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, ODF2L, OLFML2B, OMA1, OPRD1, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10R2, OR10X1, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L3, OR2L8, OR2M3, OR2M4, OR2M7, OR2T11, OR2T12, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR4F5, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6P1, OR6Y1, OVGP1, PADI1, PADI2, PADI3, PADI4, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARP1, PBX1, PBXIP1, PCNXL2, PCP4L1, PCSK9, PDE4B, PDE4DIP, PDPN, PEAR1, PEF1, PER3, PEX10, PGBD5, PGD, PGLYRP4, PGM1, PHACTR4, PHC2, PHGDH, PI4KB, PIGC, PIGK, PIGR, PIK3C2B, PIK3R3, PINK1, PIP5K1A, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G4A, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLOD1, PLXNA2, PM20D1, PMF1-BGLAP, PODN, POMGNT1, POU2F1, PPFIA4, PPIAL4G, PPIE, PPM1J, PPP1R15B, PQLC2, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF19, PRAMEF2, PRAMEF22, PRAMEF26, PRAMEF4, PRAMEF6, PRAMEF7, PRCC, PRDM16, PRDM2, PRELP, PRG4, PRKCZ, PROK1, PRRC2C, PRSS38, PRUNE, PSEN2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCHD2, PTGER3, PTGFRN, PTPN14, PTPN22, PTPN7, PTPRF, PTPRU, PUSL1, PVRL4, QSOX1, RABGAP1L, RABGGTB, RALGPS2, RAP1GAP, RASAL2, RASSF5, RBBP4, RBM15, RBMXL1, RC3H1, RCAN3, RCC1, RCC2, RERE, RFX5, RGS16, RGS8, RGSL1, RHBG, RHCE, RHOU, RIMKLA, RIT1, RNASEL, RNF19B, RNF207, RNF223, RNPC3, RNPEP, ROR1, RORC, RP11-126K1.2, RP11-156E8.1, RP11-480I12.4, RPAP2, RPF1, RPL5, RPRD2, RPS6KA1, RPTN, RRNAD1, RSC1A1, RUNX3, RUSC1, RWDD3, RXFP4, RXRG, RYR2, S100A7, S100A7A, S100A7L2, SAMD11, SASS6, SCP2, SCYL3, SDCCAG8, SDF4, SDHB, SEC16B, SELL, SELP, SEMA4A, SEMA6C, SEPN1, SERINC2, SERPINC1, SETDB1, SF3A3, SFPQ, SH2D1B, SH2D2A, SH2D5, SH3D21, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF9, SLC16A1, SLC1A7, SLC22A15, SLC26A9, SLC2A5, SLC2A7, SLC30A2, SLC35D1, SLC35E2B, SLC35F3, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC5A9, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SMAP2, SMG7, SMPDL3B, SMYD2, SMYD3, SNAP47, SNRNP40, SNX7, SOAT1, SORT1, SPAG17, SPATA17, SPEN, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRGAP2, SRM, SRSF4, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STPG1, STX6, SUCO, SUSD4, SV2A, SWT1, SYCP1, SYDE2, SYNC, SYT11, SYT2, SYT6, SYTL1, SZT2, TAF5L, TAL1, TARBP1, TAS1R1, TAS1R2, TAS1R3, TBCE, TBX15, TCHH, TCTEX1D1, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TEX35, TEX38, TFB2M, TGFBR3, THEM4, THEM5, THRAP3, TIE1, TIMM17A, TLR5, TMCC2, TMCO4, TMED5, TMEM201, TMEM206, TMEM222, TMEM51, TMEM52, TMEM61, TMEM63A, TMEM81, TMEM82, TMEM88B, TMEM9, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF8, TNN, TNNT2, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TP73, TRAF3IP3, TRIM17, TRIM33, TRIM45, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRNAU1AP, TRNP1, TSEN15, TSHB, TSPAN2, TTC13, TTC22, TTC24, TTC34, TTC39A, TTLL10, TYW3, UAP1, UBAP2L, UBE2T, UBQLN4, UBXN11, URB2, USH2A, USP24, UTS2, VANGL2, VAV3, VCAM1, VPS13D, VTCN1, VWA1, WDR63, WDR65, WDR78, WI2-3308P17.2, WLS, WNT2B, WNT9A, WRAP73, XCL2, XPR1, YBX1, YOD1, YY1AP1, ZBED6, ZBTB40, ZBTB7B, ZBTB8A, ZC3H11A, ZC3H12A, ZCCHC11, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYM6NB, ZMYND12, ZNF281, ZNF326, ZNF436, ZNF644, ZNF683, ZNF684, ZNF695, ZNF697, ZRANB2, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B,

+ Genes associated with diseases 222

Genes at Omim

ABCA4, ABCD3, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, AP4B1, APCS, ARID1A, ASH1L, ASPM, ATAD3A, ATF6, ATP13A2, ATP1A2, BRDT, C8A, C8B, CACNA1E, CACNA1S, CAMTA1, CASQ2, CENPF, CEP104, CFH, CFHR1, CFHR3, CFHR5, CHI3L1, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COA7, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DHDDS, DISC1, DNAJC6, DPYD, DSTYK, DVL1, ECM1, EDARADD, EGLN1, EPHA2, EPHB2, EPHX1, EPRS, ESPN, F5, FAAH, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCN3, FLG, FLG2, FLVCR1, FMN2, FMO3, FOXD3, FOXE3, GABRD, GFI1, GLUL, GNAT2, GNPAT, GORAB, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IBA57, IGSF3, IL23R, IL6R, IRF2BP2, ISG15, KCNH1, KCNQ4, KCNT2, KDM5B, KIF14, KIF1B, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LMNA, LOR, LRIG2, LRP8, LYST, MACF1, MASP2, MECR, MMACHC, MTHFR, MTOR, MTR, MUC1, MYOC, MYSM1, NCF2, NEK2, NEXN, NFASC, NFIA, NGF, NLRP3, NOTCH2, NPHP4, NTRK1, NUP133, PADI3, PADI4, PBX1, PCSK9, PER3, PEX10, PGM1, PHGDH, PIGC, PINK1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLEKHG5, PLOD1, POMGNT1, PPP1R15B, PRCC, PRDM16, PRG4, PSEN2, PSMB4, PTPN14, PTPN22, PTPRF, RBM15, RERE, RFX5, RHCE, RIT1, RNASEL, RNPC3, ROR1, RORC, RPL5, RYR2, SASS6, SCP2, SDCCAG8, SDHB, SEMA4A, SERPINC1, SLC16A1, SLC30A2, SLC35D1, SLC45A1, SLC6A17, SLC6A9, SLC9A1, SORT1, SPRTN, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TAL1, TBCE, TBX15, TCHH, TLR5, TNFRSF4, TNNT2, TOR1AIP1, TRIT1, TSEN15, TSHB, UBE2T, USH2A, VANGL2, VPS13D, WNT2B, XPR1, YY1AP1, ZMPSTE24, ZNF644,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCD3	?Bile acid synthesis defect, congenital, 5, 616278 (3)
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
ACTN2	Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3) Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ADAMTSL4	Ectopia lentis et pupillae, 225200 (3) Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR	Aicardi-Goutieres syndrome 6, 615010 (3) Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3	Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AGL	Glycogen storage disease IIIa, 232400 (3) Glycogen storage disease IIIb, 232400 (3)
AGRN	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGT	{Hypertension, essential, susceptibility to}, 145500 (3) {Preeclampsia, susceptibility to} (3) Renal tubular dysgenesis, 267430 (3)
AHDC1	Xia-Gibbs syndrome, 615829 (3)
ALDH4A1	Hyperprolinemia, type II, 239510 (3)
ALG6	Congenital disorder of glycosylation, type Ic, 603147 (3)
ALPL	Hypophosphatasia, adult, 146300 (3) Hypophosphatasia, childhood, 241510 (3) Hypophosphatasia, infantile, 241500 (3) Odontohypophosphatasia, 146300 (3)
AMPD1	Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
AMPD2	Pontocerebellar hypoplasia, type 9, 615809 (3) ?Spastic paraplegia 63, 615686 (3)
AP4B1	Spastic paraplegia 47, autosomal recessive, 614066 (3)
APCS	{?Amyloidosis, secondary, susceptibility to} (1)
ARID1A	Coffin-Siris syndrome 2, 614607 (3)
ASH1L	Mental retardation, autosomal dominant 52, 617796 (3)
ASPM	Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATAD3A	Harel-Yoon syndrome, 617183 (3)
ATF6	Achromatopsia 7, 616517 (3)
ATP13A2	Kufor-Rakeb syndrome, 606693 (3) Spastic paraplegia 78, autosomal recessive, 617225 (3)
ATP1A2	Alternating hemiplegia of childhood 1, 104290 (3) Migraine, familial basilar, 602481 (3) Migraine, familial hemiplegic, 2, 602481 (3)
BRDT	?Spermatogenic failure 21, 617644 (3)
C8A	C8 deficiency, type I, 613790 (3)
C8B	C8 deficiency, type II, 613789 (3)
CACNA1E	Epileptic encephalopathy, early infantile, 69, 618285 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAMTA1	Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CENPF	Stromme syndrome, 243605 (3)
CEP104	Joubert syndrome 25, 616781 (3)
CFH	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) Basal laminar drusen, 126700 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3)
CFHR1	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) {Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR3	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) {Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR5	Nephropathy due to CFHR5 deficiency, 614809 (3)
CHI3L1	{Schizophrenia, susceptibility to}, 181500 (3) {Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLCNKA	Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB	Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3)
CLDN19	Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
CNTN2	?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
COA6	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
COA7	?Mitochondrial complex IV deficiency, 220110 (3)
COL11A1	Fibrochondrogenesis 1, 228520 (3) {Lumbar disc herniation, susceptibility to}, 603932 (3) Marshall syndrome, 154780 (3) Stickler syndrome, type II, 604841 (3)
COL9A2	Epiphyseal dysplasia, multiple, 2, 600204 (3) ?Stickler syndrome, type V, 614284 (3)
COPA	{Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
CPT2	CPT II deficiency, infantile, 600649 (3) CPT II deficiency, lethal neonatal, 608836 (3) CPT II deficiency, myopathic, stress-induced, 255110 (3) {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CR1	CR1 deficiency (1) {Malaria, severe, resistance to}, 611162 (3) [Blood group, Knops system], 607486 (3) {?SLE susceptibility} (1)
CR2	Immunodeficiency, common variable, 7, 614699 (3) {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRB1	Leber congenital amaurosis 8, 613835 (3) Pigmented paravenous chorioretinal atrophy, 172870 (3) Retinitis pigmentosa-12, 600105 (3)
CSF3R	Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTH	Homocysteine, total plasma, elevated (3) Cystathioninuria, 219500 (3)
CTSK	Pycnodysostosis, 265800 (3)
DBT	Maple syrup urine disease, type II, 248600 (3)
DDOST	?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) Warburg-Cinotti syndrome, 618175 (3)
DDX59	Orofaciodigital syndrome V, 174300 (3)
DHCR24	Desmosterolosis, 602398 (3)
DHDDS	Developmental delay and seizures with or without movement abnormalities, 617836 (3) ?Congenital disorder of glycosylation, type 1bb, 613861 (3) Retinitis pigmentosa 59, 613861 (3)
DISC1	{Schizophrenia 9, susceptibility to}, 604906 (3)
DNAJC6	Parkinson disease 19a, juvenile-onset, 615528 (3) Parkinson disease 19b, early-onset, 615528 (3)
DPYD	Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5-fluorouracil toxicity, 274270 (3)
DSTYK	Congenital anomalies of kidney and urinary tract 1, 610805 (3) Spastic paraplegia 23, 270750 (3)
DVL1	Robinow syndrome, autosomal dominant 2, 616331 (3)
ECM1	Urbach-Wiethe disease, 247100 (3)
EDARADD	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3) Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EGLN1	Erythrocytosis, familial, 3, 609820 (3) [Hemoglobin, high altitude adaptation], 609070 (3)
EPHA2	Cataract 6, multiple types, 116600 (3)
EPHB2	{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPHX1	?Hypercholanemia, familial, 607748 (3)
EPRS	Leukodystrophy, hypomyelinating, 15, 617951 (3)
ESPN	Deafness, autosomal recessive 36, 609006 (3) Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
F5	Factor V deficiency, 227400 (3) {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) {Stroke, ischemic, susceptibility to}, 601367 (3) {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3) Thrombophilia due to activated protein C resistance, 188055 (3) {Budd-Chiari syndrome}, 600880 (3)
FAAH	{Drug addiction, susceptibility to}, 606581 (3)
FCGR2A	{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR2B	{Malaria, resistance to}, 611162 (3) {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
FCGR2C	Thrombocytopenic purpura, autoimmune, 188030 (1)
FCGR3A	Immunodeficiency 20, 615707 (3)
FCGR3B	Neutropenia, alloimmune neonatal (3)
FCN3	Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
FLG	Ichthyosis vulgaris, 146700 (3) {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FLG2	Peeling skin syndrome 6, 618084 (3)
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FMO3	Trimethylaminuria, 602079 (3)
FOXD3	{Autoimmune disease, susceptibility to, 1}, 607836 (3)
FOXE3	Anterior segment dysgenesis 2, multiple subtypes, 610256 (3) Cataract 34, multiple types, 612968 (3) {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
GABRD	{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3) {Epilepsy, idiopathic generalized, 10}, 613060 (3) {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GFI1	?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GLUL	Glutamine deficiency, congenital, 610015 (3)
GNAT2	Achromatopsia 4, 613856 (3)
GNPAT	Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB	Geroderma osteodysplasticum, 231070 (3)
GRHL3	Van der Woude syndrome 2, 606713 (3)
H6PD	Cortisone reductase deficiency 1, 604931 (3)
HFM1	Premature ovarian failure 9, 615724 (3)
HMCN1	{Macular degeneration, age-related, 1}, 603075 (3)
HMGCL	HMG-CoA lyase deficiency, 246450 (3)
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) Schwartz-Jampel syndrome, type 1, 255800 (3)
IBA57	Multiple mitochondrial dysfunctions syndrome 3, 615330 (3) ?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
IL23R	{Inflammatory bowel disease 17, protection against}, 612261 (3) {Psoriasis, protection against}, 605606 (3)
IL6R	[Interleukin 6, serum level of, QTL], 614752 (3) [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)
IRF2BP2	?Immunodeficiency, common variable, 14, 617765 (3)
ISG15	Immunodeficiency 38, 616126 (3)
KCNH1	Temple-Baraitser syndrome, 611816 (3) Zimmermann-Laband syndrome 1, 135500 (3)
KCNQ4	Deafness, autosomal dominant 2A, 600101 (3)
KCNT2	?Epileptic encephalopathy, early infantile, 57, 617771 (3)
KDM5B	Mental retardation, autosomal recessive 65, 618109 (3)
KIF14	Microcephaly 20, primary, autosomal recessive, 617914 (3) ?Meckel syndrome 12, 616258 (3)
KIF1B	{Neuroblastoma, susceptibility to, 1}, 256700 (3) Pheochromocytoma, 171300 (3) ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
LAMB3	Amelogenesis imperfecta, type IA, 104530 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC2	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LBR	Greenberg skeletal dysplasia, 215140 (3) Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3) Pelger-Huet anomaly, 169400 (3) ?Reynolds syndrome, 613471 (3)
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEPR	Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
LMNA	Cardiomyopathy, dilated, 1A, 115200 (3) Heart-hand syndrome, Slovenian type, 610140 (3) Charcot-Marie-Tooth disease, type 2B1, 605588 (3) Hutchinson-Gilford progeria, 176670 (3) Lipodystrophy, familial partial, type 2, 151660 (3) Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3) Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3) Malouf syndrome, 212112 (3) Mandibuloacral dysplasia, 248370 (3) Muscular dystrophy, congenital, 613205 (3) Restrictive dermopathy, lethal, 275210 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
LRIG2	Urofacial syndrome 2, 615112 (3)
LRP8	{Myocardial infarction, susceptibility to}, 608446 (3)
LYST	Chediak-Higashi syndrome, 214500 (3)
MACF1	Lissencephaly 9 with complex brainstem malformation, 618325 (3)
MASP2	MASP2 deficiency, 613791 (3)
MECR	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MTHFR	Homocystinuria due to MTHFR deficiency, 236250 (3) {Neural tube defects, susceptibility to}, 601634 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Thromboembolism, susceptibility to}, 188050 (3) {Vascular disease, susceptibility to} (3)
MTOR	Focal cortical dysplasia, type II, somatic, 607341 (3) Smith-Kingsmore syndrome, 616638 (3)
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC1	Medullary cystic kidney disease 1, 174000 (3)
MYOC	Glaucoma 1A, primary open angle, 137750 (3)
MYSM1	Bone marrow failure syndrome 4, 618116 (3)
NCF2	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2	?Retinitis pigmentosa 67, 615565 (3)
NEXN	Cardiomyopathy, dilated, 1CC, 613122 (3) Cardiomyopathy, hypertrophic, 20, 613876 (3)
NFASC	Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)
NFIA	Brain malformations with or without urinary tract defects, 613735 (3)
NGF	Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
NLRP3	Familial cold inflammatory syndrome 1, 120100 (3) CINCA syndrome, 607115 (3) Deafness, autosomal dominant 34, with or without inflammation, 617772 (3) Keratoendothelitis fugax hereditaria, 148200 (3) Muckle-Wells syndrome, 191900 (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
NPHP4	Nephronophthisis 4, 606966 (3) Senior-Loken syndrome 4, 606996 (3)
NTRK1	Insensitivity to pain, congenital, with anhidrosis, 256800 (3) Medullary thyroid carcinoma, familial, 155240 (3)
NUP133	?Galloway-Mowat syndrome 8, 618349 (3) Nephrotic syndrome, type 18, 618177 (3)
PADI3	Uncombable hair syndrome, 191480 (3)
PADI4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
PBX1	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3)
PCSK9	{Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Hypercholesterolemia, familial, 3, 603776 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX10	Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3) Peroxisome biogenesis disorder 6B, 614871 (3)
PGM1	Congenital disorder of glycosylation, type It, 614921 (3)
PHGDH	Neu-Laxova syndrome 1, 256520 (3) Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PIGC	Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)
PINK1	Parkinson disease 6, early onset, 605909 (3)
PKLR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3) Pyruvate kinase deficiency, 266200 (3)
PKP1	Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PLA2G2A	{?Colorectal cancer, susceptibility to}, 114500 (3)
PLA2G4A	Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (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)
PPP1R15B	Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
PRCC	Renal cell carcinoma, papillary, 605074 (3)
PRDM16	Cardiomyopathy, dilated, 1LL, 615373 (3) Left ventricular noncompaction 8, 615373 (3)
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PSEN2	Alzheimer disease-4, 606889 (3) Cardiomyopathy, dilated, 1V, 613697 (3)
PSMB4	?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3)
PTPN14	Choanal atresia and lymphedema, 613611 (3)
PTPN22	{Rheumatoid arthritis, susceptibility to}, 180300 (3) {Systemic lupus erythematosus susceptibility to}, 152700 (3) {Diabetes, type 1, susceptibility to}, 222100 (3)
PTPRF	?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
RBM15	Megakaryoblastic leukemia, acute (2)
RERE	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RFX5	Bare lymphocyte syndrome, type II, complementation group C, 209920 (3) Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RHCE	Rh-null disease, amorph type, 617970 (3) [Blood group, Rhesus] (3)
RIT1	Noonan syndrome 8, 615355 (3)
RNASEL	Prostate cancer 1, 601518 (3)
RNPC3	?Growth hormone deficiency, isolated, type V, 618160 (3)
ROR1	?Deafness, autosomal recessive 108, 617654 (3)
RORC	Immunodeficiency 42, 616622 (3)
RPL5	Diamond-Blackfan anemia 6, 612561 (3)
RYR2	Arrhythmogenic right ventricular dysplasia 2, 600996 (3) Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SASS6	?Microcephaly 14, primary, autosomal recessive, 616402 (3)
SCP2	?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)
SDCCAG8	Bardet-Biedl syndrome 16, 615993 (3) Senior-Loken syndrome 7, 613615 (3)
SDHB	Gastrointestinal stromal tumor, 606764 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 4, 115310 (3) Pheochromocytoma, 171300 (3)
SEMA4A	Cone-rod dystrophy 10, 610283 (3) Retinitis pigmentosa 35, 610282 (3)
SERPINC1	Thrombophilia due to antithrombin III deficiency, 613118 (3)
SLC16A1	Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3) Erythrocyte lactate transporter defect, 245340 (3) Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC30A2	Zinc deficiency, transient neonatal, 608118 (3)
SLC35D1	Schneckenbecken dysplasia, 269250 (3)
SLC45A1	Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SLC6A17	Mental retardation, autosomal recessive 48, 616269 (3)
SLC6A9	Glycine encephalopathy with normal serum glycine, 617301 (3)
SLC9A1	?Lichtenstein-Knorr syndrome, 616291 (3)
SORT1	[Low density lipoprotein cholesterol level QTL6], 613589 (3)
SPRTN	Ruijs-Aalfs syndrome, 616200 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)
ST3GAL3	?Epileptic encephalopathy, early infantile, 15, 615006 (3) Mental retardation, autosomal recessive 12, 611090 (3)
STIL	Microcephaly 7, primary, autosomal recessive, 612703 (3)
SYT2	Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
SZT2	Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAL1	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TBCE	Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3) Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3) Kenny-Caffey syndrome, type 1, 244460 (3)
TBX15	Cousin syndrome, 260660 (3)
TCHH	?Uncombable hair syndrome 3, 617252 (3)
TLR5	{Legionnaire disease, susceptibility to}, 608556 (3) {Melioidosis, susceptibility to}, 615557 (3) {Systemic lupus erythematosus, resistance to}, 601744 (3) {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TNFRSF4	?Immunodeficiency 16, 615593 (3)
TNNT2	Cardiomyopathy, dilated, 1D, 601494 (3) Cardiomyopathy, familial restrictive, 3, 612422 (3) Cardiomyopathy, hypertrophic, 2, 115195 (3) Left ventricular noncompaction 6, 601494 (3)
TOR1AIP1	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)
TRIT1	Combined oxidative phosphorylation deficiency 35, 617873 (3)
TSEN15	Pontocerebellar hypoplasia, type 2F, 617026 (3)
TSHB	Hypothyroidism, congenital, nongoitrous 4, 275100 (3)
UBE2T	Fanconi anemia, complementation group T, 616435 (3)
USH2A	Retinitis pigmentosa 39, 613809 (3) Usher syndrome, type 2A, 276901 (3)
VANGL2	Neural tube defects, 182940 (3)
VPS13D	Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
WNT2B	Diarrhea 9, 618168 (3)
XPR1	Basal ganglia calcification, idiopathic, 6, 616413 (3)
YY1AP1	Grange syndrome, 602531 (3)
ZMPSTE24	Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3) Restrictive dermopathy, lethal, 275210 (3)
ZNF644	Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

ABCA4, ABCD3, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, AP4B1, ARID1A, ASPM, ATF6, ATP13A2, ATP1A2, C8A, C8B, CACNA1S, CAMTA1, CASQ2, CENPF, CFH, CFHR1, CFHR3, CFHR4, CHIT1, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DHDDS, DNAJC6, DPYD, DSTYK, DVL1, ECM1, EDARADD, EGLN1, EPHA2, EPHX1, ESPN, F5, FCGR3A, FCN3, FLG, FLVCR1, FMN2, FMO3, FOXE3, GFI1, GLUL, GNAT2, GNPAT, GORAB, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IBA57, IGSF3, ISG15, KCNH1, KCNQ4, KIF14, KIF1B, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LMNA, LOR, LRIG2, LYST, MAP3K6, MASP2, MMACHC, MTHFR, MTOR, MTR, MUC1, MYOC, NCF2, NEK2, NEXN, NGF, NLRP3, NOTCH2, NPHP4, NTRK1, PCSK9, PER3, PEX10, PGM1, PHGDH, PINK1, PKLR, PKP1, PLA2G4A, PLEKHG5, PLOD1, POMGNT1, PPP1R15B, PRDM16, PRG4, PSEN2, PTPN14, PTPRF, RFX5, RHCE, RIT1, RNASEL, RORC, RPL5, RYR2, SASS6, SCP2, SDCCAG8, SDHB, SEMA4A, SEPN1, SERPINC1, SLC16A1, SLC35D1, SLC41A1, SLC6A17, SLC9A1, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TBCE, TBX15, TNFRSF4, TNNT2, TSHB, UBE2T, USH2A, VANGL2, XPR1, ZMPSTE24, ZNF644,

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCD3	Bile acid synthesis defect, congenital, 5
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of
ACTN2	Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
ADAMTSL4	Ectopia lentis, isolated, autosomal recessive
ADAR	Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome 6
ADCK3	Coenzyme Q10 deficiency Progressive cerebellar ataxia and atrophy Spinocerebellar ataxia 9
AGL	Glycogen storage disease III
AGRN	Myasthenic syndrome, congenital 8
AGT	Renal tubular dysgenesis
AHDC1	Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
ALDH4A1	Hyperprolinemia, type II
ALG6	Congenital disorder of glycosylation, type Ic
ALPL	Hypophosphatasia, infantile Odontohypophosphatasia
AMPD1	Myoadenylate deaminase deficiency
AMPD2	Pontocerebellar hypoplasia type 9 Spastic paraplegia 63
AP4B1	Spastic paraplegia 47, autosomal recessive
ARID1A	Mental retardation, autosomal dominant 14 Coffin-Siris syndrome 2
ASPM	Microcephaly, primary autosomal recessive, 5
ATF6	Achromatopsia 7
ATP13A2	Parkinson disease 9 (Kufor-Rakeb syndrome) Ceroid lipofuscinosis, neuronal, 12
ATP1A2	Alternating hemiplegia of childhood Migraine, familial hemiplegic 2
C8A	Complement component 8 deficiency, type I
C8B	Complement component 8 deficiency, type II
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
CAMTA1	Cerebellar ataxia, nonprogressive, with mental retardation
CASQ2	Ventricular tachycardia, catecholaminergic, polymorphic, 2
CENPF	Ciliary dyskinesia, primary 31 (Stromme syndrome)
CFH	Hemolytic uremic syndrome, atypical Complement factor H deficiency
CFHR1	Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR3	Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR4	Hemolytic-uremic syndrome, atypical, susceptibility to
CHIT1	Chitotriosidase deficiency
CLCNKA	Bartter syndrome, type 4, digenic
CLCNKB	Bartter syndrome, type 4, digenic Bartter syndrome, type 3
CLDN19	Hypomagnesemia 5, renal, with ocular involvement
CNTN2	Epilepsy, familial adult myoclonic 5
COA6	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COL11A1	Stickler syndrome, type II Fibrochondrogenesis Marshall syndrome
COL9A2	Stickler syndrome, Type V
COPA	Autoimmune interstitial lung, joint, and kidney disease
CPT2	Carnitine palmitoyltransferase II deficiency
CR1	Blood group, Knops system
CR2	Common variable immune deficiency, 7
CRB1	Leber congenital amaurosis 8 Retinitis pigmentosa 12, autosomal recessive Pigmented paravenous chorioretinal atrophy
CSF3R	Neutrophilia, hereditary
CTH	Cystathioninuria
CTSK	Pycnodysostosis
DBT	Maple syrup urine disease, type II
DDOST	Congenital disorder of glycosylation, type Ir
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type
DDX59	Orofaciodigital syndrome V
DHCR24	Desmosterolosis
DHDDS	Retinitis pigmentosa 59
DNAJC6	Juvenile Parkinsonism, autosomal recessive
DPYD	5-fluorouracil toxicity
DSTYK	Congenital anomalies of the kidney and urinary tract 1
DVL1	Robinow syndrome, autosomal dominant 2
ECM1	Lipoid proteinosis
EDARADD	Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive
EGLN1	Erythrocytosis, familial, 3
EPHA2	Cataract 6, multiple types
EPHX1	Hypercholanemia, familial
ESPN	Deafness, autosomal dominant, without vestibular involvement Deafness, autosomal recessive 36
F5	Thrombophilia due to activated protein C resistance Factor V deficiency
FCGR3A	Immunodeficiency 20
FCN3	Immunodeficiency due to Ficolin 3 deficiency
FLG	Icthyosis vulgaris
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa
FMN2	Mental retardation, autosomal recessive, 47
FMO3	Trimethylaminuria
FOXE3	Aphakia, congenital primary Anterior segment mesenchymal dysgenesis
GFI1	Neutropenia, severe congenital, 2 autosomal dominant Neutropenia, nonimmune chronic idiopathic, of adults
GLUL	Glutamine deficiency, congenital
GNAT2	Achromatopsia 4
GNPAT	Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB	Geroderma osteodysplasticum
GRHL3	van der Woude syndrome 2
H6PD	Cortisone reductase deficiency
HFM1	Premature ovarian failure 9
HMCN1	Macular degeneration, age-related, 1
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HSPG2	Schwartz-Jampel syndrome, type 1
IBA57	Multiple mitochondrial dysfunctions syndrome 3 Spastic paraplegia 74, autosomal recessive
IGSF3	Lacrimal duct defect
ISG15	Immunodeficiency 38, with basal ganglia calcification
KCNH1	Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
KCNQ4	Deafness, autosomal dominant 2A
KIF14	Meckel syndrome 12
KIF1B	Neuroblastoma, susceptibility to Pheochromocytoma
LAMB3	Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, Herlitz type Amelogenesis imperfecta, type IA
LAMC2	Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, Herlitz type
LBR	Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Reynolds syndrome Pelger-Huet anomaly Greenberg/HEM skeletal dysplasia
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive
LEPR	Leptin receptor deficiency
LMNA	Cardiomyopathy, dilated, 1A Heart-hand syndrome, Slovenian type Emery-Dreiffus muscular dystrophy, autosomal dominant Emery-Dreiffus muscular dystrophy 3, autosomal recessive Muscular dystrophy, congenital, LMNA-related Limb-girdle muscular dystrophy type 1B Malouf syndrome Lipodystrophy, familial partial, 2 (Dunnigan type)
LOR	Vohwinkel syndrome, variant form
LRIG2	Urofacial syndrome 2
LYST	Chediak-Higashi syndrome
MAP3K6	Familial gastric cancer
MASP2	MASP2 deficiency
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type
MTHFR	Homocystinuria due to MTHFR deficiency
MTOR	Smith-Kingsmore syndrome
MTR	Methylmalonic acidemia, cblG type
MUC1	Medullary cystic kidney disease 1
MYOC	Glaucoma, primary open angle
NCF2	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2	Retinitis pigmentosa 67
NEXN	Cardiomyopathy, familial hypertrophic, 20 Cardiomyopathy, dilated, 1CC
NGF	Neuropathy, hereditary sensory and autonomic, type V
NLRP3	Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome Neonatal Onset Multisystem Inflammatory Disease (NOMID) Muckle-Wells syndrome
NOTCH2	Alagille syndrome 2
NPHP4	Nephronophthisis 4 Senior-Loken syndrome 4
NTRK1	Insensitivity to pain, congenital, with anhidrosis
PCSK9	Hypercholesterolemia, familial, 3
PER3	Advanced sleep phase syndrome, familial, 3
PEX10	Peroxisome biogenesis disorder 6B Peroxisome biogenesis factor disorder 10 Adrenoleukodystrophy, neonatal Zellweger syndrome Ataxia, autosomal recessive
PGM1	Congenital disorder of glycosylation, type It
PHGDH	Phosphoglycerate dehydrogenase deficiency
PINK1	Parkinson disease 6, autosomal recessive, early onset
PKLR	Pyruvate kinase deficiency
PKP1	Ectodermal dysplasia/skin fragility syndrome
PLA2G4A	Phospholipase A2, group IV A, deficiency of
PLEKHG5	Charcot-Marie-Tooth disease C, recessive intermediate Spinal muscular atrophy, distal, autosomal recessive, 4
PLOD1	Ehlers-Danlos syndrome type VI
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PPP1R15B	Microcephaly, short stature, and impaired glucose metabolism 2
PRDM16	Cardiomyopathy, dilated, ILL Left ventricular noncompaction 8
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2	Cardiomyopathy, dilated, 1V Peripartum/pregnancy-associated cardiomyopathy
PTPN14	Choanal atresia and lymphedema
PTPRF	Breasts and/or nipples, aplasia or hypoplasia of, 2
RFX5	Bare lymphocyte syndrome, type II
RHCE	Rhesus blood group
RIT1	Noonan syndrome 8
RNASEL	Prostate cancer, hereditary, 1
RORC	Immunodeficiency 42
RPL5	Diamond-Blackfan anemia 6
RYR2	Ventricular tachycardia, catecholaminergic polymorphic, 1 Arrhythmogenic right ventricular dysplasia 2
SASS6	Microcephaly 14, primary, autosomal recessive
SCP2	Leukoencephalopathy with dystonia and motor neuropathy
SDCCAG8	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7
SDHB	Pheochromocytoma Gastrointestinal stromal tumor Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Paragangliomas 4
SEMA4A	Cone-rod dystrophy 10 Retinitis pigmentosa 35
SEPN1	Muscular dystrophy, rigid spine, 1 Myopathy, congenital, with fiber-type disproportion
SERPINC1	Antithrombin III deficiency
SLC16A1	Hyperinsulinemic hypoglycemia, familial, 7 Erythrocyte lactate transporter defect Monocarboxylate transporter 1 deficiency (AR)
SLC35D1	Schneckenbecken dysplasia
SLC41A1	Nephronophthisis-like ciliopathy
SLC6A17	Mental retardation, autosomal recessive 48
SLC9A1	Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
ST3GAL3	Mental retardation, autosomal recessive 12 Epileptic encephalopathy, early infantile, 15
STIL	Microcephaly, primary autosomal recessive, 7
SYT2	Myasthenic syndrome, congenital 7
SZT2	Epileptic encephalopathy, early infantile, 18
TBCE	Kenny-Caffey syndrome, type 1 Hypoparathyroidism-retardation-dysmorphism syndrome
TBX15	Cousin syndrome
TNFRSF4	Immunodeficiency 16
TNNT2	Cardiomyopathy, familial restrictive, 3 Cardiomyopathy, dilated, 1D Left ventricular noncompaction 6 Cardiomyopathy, familial hypertrophic, 2
TSHB	Hypothyroidism, congenital, nongoitrous, 4
UBE2T	Fanconi anemia, complementation group T
USH2A	Usher syndrome, type 2A
VANGL2	Neural tube defects
XPR1	Basal ganglia calcification, idiopathic, 6
ZMPSTE24	Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal
ZNF644	Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 16458
Number of Genes: 1047

Export to: CSV

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AADACL3
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	combined sample_97.variant42	1	rs3000859 dbSNP Clinvar	12776344	2228.74	A	T	PASS	0/1	161	START_GAINED	LOW	None	0.65655	0.65650	0.27373	1.00	0.00		None None	None None None None	AADACL3\|0.001467435\|92.94%
	View	combined sample_97.variant42	1	rs3010876 dbSNP Clinvar	12779560	6294.04	T	C	PASS	0/1	138	SYNONYMOUS_CODING	LOW	None	0.84944	0.84940	0.14324				None None	None None None None	AADACL3\|0.001467435\|92.94%
	View	combined sample_97.variant42	1	rs3010877 dbSNP Clinvar	12779618	3901.77	T	C	PASS	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None	0.84804	0.84800	0.14252	1.00	0.00		None None	None None None None	AADACL3\|0.001467435\|92.94%
	View	combined sample_97.variant42	1	rs7513079 dbSNP Clinvar	12785494	5028.71	G	T	PASS	0/1	109	NON_SYNONYMOUS_CODING	MODERATE	None	0.68231	0.68230	0.33289	0.26	1.00		None None	None None None None	AADACL3\|0.001467435\|92.94%
ABCA4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_97.variant42	1	rs1801359 dbSNP Clinvar	94467447	3823.08	G	A	PASS	0/1	214	SYNONYMOUS_CODING	LOW	None	0.13399	0.13400	0.14601				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs1801574 dbSNP Clinvar	94476388	1175.14	C	G	PASS	0/1	74	SYNONYMOUS_CODING	LOW	None	0.20068	0.20070	0.24927				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs2275029 dbSNP Clinvar	94473845	1963.3	T	C	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.16713	0.16710	0.19968				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs1801555 dbSNP Clinvar	94466659	864.81	A	G	PASS	1/1	57	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.30112	0.30110	0.29886				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs6666652 dbSNP Clinvar	94461717	853.57	C	A	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.17692	0.17690	0.19260	0.05	0.00		None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs4147857 dbSNP Clinvar	94474328	2160.6	T	C	PASS	0/1	140	SYNONYMOUS_CODING	LOW	None	0.18750	0.18750	0.20691				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	combined sample_97.variant42	1	rs4847281 dbSNP Clinvar	94578548	1516.64	T	C	PASS	1/1	39	SYNONYMOUS_CODING	LOW	None	0.98702	0.98700	0.01230				None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCB10
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	combined sample_97.variant42	1	rs3738187 dbSNP Clinvar	229683264	587.09	G	A	PASS	0/1	23	SYNONYMOUS_CODING	LOW	None	0.30252	0.30250	0.32178				None None	None None None None	ABCB10\|0.028326577\|70.29%
ABCD3
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	combined sample_97.variant42	1	rs16946 dbSNP Clinvar	94930345	1180.53	G	A	PASS	0/1	108	SYNONYMOUS_CODING	LOW	None	0.27995	0.28000	0.37221				None None	None None None None	ABCD3\|0.51958761\|15.03%
AC092811.1
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	combined sample_97.variant42	1	rs3766928 dbSNP Clinvar	225601647	1401.32	C	T	PASS	1/1	43	SYNONYMOUS_CODING	LOW	None	0.58087	0.58090					None None	None None None None	LBR\|0.282370632\|28.92%
AC096644.1
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	combined sample_97.variant42	1	rs10553491,rs67066512 dbSNP Clinvar	220603310	948.83	TGTGA	T	PASS	1/1	27	FRAME_SHIFT	HIGH	None							None None	None None None None	None
	View	combined sample_97.variant42	1	rs1361256 dbSNP Clinvar	220607685	1654.53	G	A	PASS	1/1	58	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.81010	0.81010					None None	None None None None	None
AC119673.1
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	combined sample_97.variant42	1	rs148123511,rs374402548 dbSNP Clinvar	205683591	8705.11	TAC	T	PASS	0/1	198	FRAME_SHIFT	HIGH	None	0.00080	0.03974					None None	None None None None	NUCKS1\|0.578718378\|12.65%
	View	combined sample_97.variant42	1	.	205683626	5649.89	G	GA	PASS	0/1	192	FRAME_SHIFT	HIGH	None	0.04373						None None	None None None None	NUCKS1\|0.578718378\|12.65%
ACADM