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+ Genes 911

Genes:
AADACL3, ABCA4, ABCB10, ABCD3, AC114494.1, ACBD3, ACOT11, ACP6, ACTL8, ACTN2, ACTRT2, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADORA3, ADPRHL2, AGBL4, AGL, AGMAT, AGO1, AGO4, AGRN, AGT, AHCTF1, AHDC1, AIM1L, AJAP1, AK5, AKNAD1, AKR7A3, ALDH4A1, ALPL, AMPD1, AMPD2, ANGPTL3, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, APOBEC4, AQP10, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARNT, ARPC5, ASB17, ASPM, ASTN1, ATAD3B, ATAD3C, ATF3, ATF6, ATP13A2, ATP1A4, ATP5F1, ATP6V0B, ATP8B2, AXDND1, B4GALT3, BAI2, BCAN, BCL10, BCL9, BEND5, BLZF1, BPNT1, BRDT, BSND, C1QA, C1QC, C1orf101, C1orf105, C1orf106, C1orf111, C1orf112, C1orf127, C1orf137, C1orf143, C1orf147, C1orf158, C1orf159, C1orf168, C1orf170, C1orf173, C1orf174, C1orf177, C1orf192, C1orf195, C1orf222, C1orf227, C1orf228, C1orf27, C1orf52, C1orf53, C1orf64, C1orf65, C1orf68, C1orf85, C1orf86, C1orf87, C1orf94, C4BPA, C4BPB, C8A, CA6, CACHD1, CACNA1E, CACNA1S, CAMK1G, CAMSAP2, CAMTA1, CAPN2, CAPN8, CAPN9, CASP9, CASQ2, CASZ1, CATSPER4, CCBL2, CCDC163P, CCDC17, CCDC18, CCDC181, CCDC19, CCDC27, CCDC30, CCT3, CD101, CD164L2, CD1A, CD244, CD34, CD48, CD52, CDC42BPA, CDC7, CDK11A, CDK18, CELA2B, CELA3A, CELA3B, CELSR2, CEP104, CEP350, CEP85, CEPT1, CFH, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CLCA1, CLCA2, CLCA4, CLCC1, CLCNKA, CLCNKB, CLDN19, CLSPN, CLSTN1, CNR2, CNST, CNTN2, COA6, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COPA, CPT2, CR1, CR1L, CRCT1, CREB3L4, CRNN, CROCC, CRP, CRTC2, CRYZ, CSF1, CSF3R, CSMD2, CTBS, CTRC, CTSE, CTSS, CTTNBP2NL, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4B1, DARS2, DCAF6, DCST2, DDOST, DDR2, DDX20, DDX59, DEDD, DENND1B, DENND4B, DFFB, DHDDS, DHRS3, DHX9, DIEXF, DISC1, DISP1, DMBX1, DNAH14, DNAJC11, DNAJC16, DNAJC6, DNALI1, DNASE2B, DOCK7, DPT, DPYD, DR1, DRAXIN, DSTYK, DUSP10, DUSP12, DUSP27, E2F2, ECE1, EDARADD, EDEM3, EDN2, EFCAB7, EFNA1, EIF2D, ELAVL4, ELF3, ELK4, ELTD1, EMC1, ENAH, EPB41, EPHA10, EPHB2, EPHX1, EPRS, EPS15, EPS8L3, ERO1LB, ETV3, ETV3L, EXO1, EXO5, EXOSC10, EXTL1, F5, FAAH, FAM110D, FAM129A, FAM131C, FAM151A, FAM167B, FAM177B, FAM189B, FAM46B, FAM46C, FAM71A, FAM73A, FAM78B, FBXO2, FBXO28, FBXO42, FCAMR, FCER1A, FCGR2A, FCGR2C, FCRL1, FCRL3, FCRL5, FCRL6, FCRLB, FHAD1, FHL3, FLG, FLG2, FLVCR1, FMN2, FMO2, FMO3, FMO4, FMO5, FMOD, FNDC7, FPGT, FRRS1, FUCA1, GABRD, GALNT2, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GJA4, GJA8, GJA9, GJB4, GJB5, GLRX2, GNAT2, GNPAT, GOLPH3L, GON4L, GORAB, GPATCH3, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR37L1, GPR61, GPX7, GREM2, GRIK3, GSTM3, GSTM5, GUCA2A, GUCA2B, H6PD, HAO2, HCRTR1, HDGF, HEATR1, HES2, HES4, HFM1, HHAT, HHIPL2, HIST3H3, HIVEP3, HLX, HMCN1, HOOK1, HORMAD1, HPDL, HRNR, HSD3B1, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, ICMT, IFI16, IFI44, IFI44L, IGFN1, IGSF3, IGSF8, IGSF9, IKBKE, IL12RB2, IL19, IL22RA1, IL24, IL6R, INADL, INPP5B, INTS3, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITLN1, ITLN2, ITPKB, IVL, JAK1, JMJD4, KANK4, KAZN, KCNA10, KCNA2, KCNAB2, KCNC4, KCND3, KCNK1, KCNN3, KCNQ4, KCNT2, KCTD3, KDM4A, KDM5B, KIAA0040, KIAA0319L, KIAA1324, KIAA1522, KIAA1614, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL21, KMO, KPRP, KTI12, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1F, LCE2B, LCE4A, LCE5A, LDLRAD1, LDLRAP1, LEPR, LEPRE1, LGALS8, LGR6, LHX4, LHX8, LIN9, LPPR4, LPPR5, LRP8, LRRC38, LRRC41, LRRC47, LRRC52, LRRC53, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRIQ3, LRRN2, LUZP1, LY9, LYST, MAB21L3, MACF1, MAD2L2, MAEL, MAP10, MAP3K6, MAP7D1, MAPKAPK2, MARC2, MASP2, MAST2, MDS2, MECR, MEGF6, METTL11B, METTL13, MFAP2, MFN2, MFSD4, MIA3, MIB2, MIIP, MINOS1, MLK4, MMACHC, MMEL1, MOB3C, MORN1, MOV10, MPL, MPZ, MR1, MROH7, MROH9, MRPL37, MRPL9, MSH4, MTF1, MTMR11, MTR, MUTYH, MYBPH, MYOM3, MYSM1, NADK, NASP, NBPF3, NCF2, NCSTN, NDC1, NDUFS2, NEK2, NENF, NES, NEXN, NFASC, NFIA, NFYC, NID1, NIPAL3, NIT1, NLRP3, NME7, NOC2L, NOL9, NOS1AP, NOTCH2, NPHP4, NPHS2, NR1I3, NR5A2, NSL1, NSUN4, NTPCR, NTRK1, NUAK2, NUF2, NUP133, NUP210L, NVL, OBSCN, ODF2L, OLFM3, OLFML2B, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J5, OR10K2, OR10R2, OR10X1, OR10Z1, OR13G1, OR14C36, OR14I1, OR2AK2, OR2G2, OR2G3, OR2G6, OR2L2, OR2M2, OR2M3, OR2M7, OR2T1, OR2T12, OR2T2, OR2T35, OR2T4, OR2T6, OR6K3, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSCP1, OVGP1, PADI1, PADI2, PADI3, PADI4, PANK4, PAQR6, PARP1, PBX1, PCNXL2, PCSK9, PDE4DIP, PDPN, PEAR1, PEF1, PER3, PEX14, PGBD2, PGBD5, PGLYRP3, PGLYRP4, PGM1, PHC2, PHGDH, PI4KB, PIGC, PIGR, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLOD1, PLXNA2, PM20D1, PMF1-BGLAP, PODN, POGZ, PPAP2B, PPFIA4, PPIH, PPOX, PPP1R12B, PPP2R5A, PRAMEF1, PRAMEF12, PRAMEF2, PRDM2, PRG4, PRKAB2, PRKCZ, PROK1, PRPF38B, PRRC2C, PRSS38, PRUNE, PSEN2, PSMB4, PSMD4, PTBP2, PTCH2, PTCHD2, PTGER3, PTGFRN, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, QSOX1, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1GAP, RASSF5, RBBP5, RBM15, RBM34, RCOR3, RFX5, RGS8, RGSL1, RHBDL2, RHBG, RIMKLA, RNASEL, RNF186, RNF207, RNPC3, RNPEP, ROR1, RP11-126K1.2, RP11-480I12.4, RPE65, RPF1, RPRD2, RPS6KA1, RPTN, RRP15, RSC1A1, RUNX3, RUSC1, RYR2, S100A10, S100A12, S100A5, S100A7A, S100A7L2, SAMD11, SASS6, SCAMP3, SCCPDH, SCNN1D, SCYL3, SDC3, SEC16B, SELL, SELP, SEMA4A, SEMA6C, SERINC2, SERPINC1, SF3A3, SFPQ, SGIP1, SH2D1B, SH3D21, SHC1, SHCBP1L, SIPA1L2, SLAMF8, SLC16A1, SLC16A4, SLC1A7, SLC22A15, SLC25A24, SLC27A3, SLC2A1, SLC2A7, SLC30A10, SLC35A3, SLC35F3, SLC41A1, SLC44A5, SLC45A1, SLC45A3, SLC5A9, SLC6A17, SLC6A9, SLC9A1, SMG5, SMG7, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNIP1, SNX7, SOAT1, SPAG17, SPATA17, SPATA21, SPATA6, SPEN, SPOCD1, SPRR1A, SPRR1B, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRGAP2, SRM, SRSF4, SSBP3-AS1, SSX2IP, ST3GAL3, ST6GALNAC5, ST7L, STIL, STK40, STX6, SWT1, SYDE2, SYT2, SYTL1, SZT2, TACSTD2, TAF1A, TAF5L, TARBP1, TARS2, TAS1R1, TAS1R2, TAS1R3, TBX15, TBX19, TCEB3, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEKT2, TESK2, TEX38, TFB2M, TGFBR3, THAP3, THEM4, THEM5, THRAP3, TIE1, TINAGL1, TLR5, TMCC2, TMCO4, TMED5, TMEM183A, TMEM201, TMEM39B, TMEM51, TMEM52, TMEM61, TMEM63A, TMEM69, TMEM78, TMEM79, TMEM88B, TMEM9, TNFRSF14, TNFRSF1B, TNFRSF8, TNN, TNNT2, TP53BP2, TPR, TRABD2B, TRAF3IP3, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM63, TRIM67, TRIT1, TSACC, TSEN15, TSSK3, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, UBE2T, UBE4B, UBQLN4, UBR4, UBXN11, URB2, USH2A, USP1, USP33, UTS2, VANGL1, VANGL2, VAV3, VPS13D, VTCN1, VWA5B1, WARS2, WASF2, WDR63, WDR65, WDR77, WDR78, WDTC1, WLS, WNT2B, YIPF1, YY1AP1, ZBED6, ZBTB17, ZC3H12A, ZFP69B, ZMPSTE24, ZMYM1, ZMYND12, ZNF436, ZNF644, ZNF648, ZNF672, ZNF683, ZNF684, ZNF687, ZNF692, ZNF697, ZSCAN20, ZSWIM5,

+ Genes associated with diseases 204

Genes at Omim

ABCA4, ABCD3, ACTN2, ADAMTSL4, ADAR, ADCY10, ADPRHL2, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALPL, AMPD1, AMPD2, ANGPTL3, ASPM, ATF6, ATP13A2, BCL10, BRDT, BSND, C1QA, C1QC, C8A, CACNA1E, CACNA1S, CAMTA1, CASQ2, CD244, CEP104, CFH, CHI3L1, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COG2, COL11A1, COL8A2, COL9A2, COPA, CPT2, CR1, CSF3R, CTRC, DARS2, DDOST, DDR2, DDX59, DHDDS, DISC1, DNAJC6, DOCK7, DPYD, DSTYK, ECE1, EDARADD, EMC1, EPB41, EPHB2, EPHX1, EPRS, F5, FAAH, FCGR2A, FCGR2C, FLG, FLG2, FLVCR1, FMN2, FMO3, FUCA1, GABRD, GJA8, GJB4, GNAT2, GNPAT, GORAB, GREM2, H6PD, HFM1, HMCN1, HSPG2, IGSF3, IL6R, IRF2BP2, IRF6, ISG15, KCNA2, KCND3, KCNQ4, KCNT2, KDM5B, KIF14, KIF1B, KISS1, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LHX4, LRP8, LYST, MACF1, MAD2L2, MASP2, MECR, MFN2, MMACHC, MPL, MPZ, MR1, MTR, MUTYH, MYSM1, NCF2, NCSTN, NDUFS2, NEK2, NEXN, NFASC, NFIA, NLRP3, NOTCH2, NPHP4, NTRK1, NUP133, ORC1, PADI3, PADI4, PBX1, PCSK9, PER3, PEX14, PGM1, PHGDH, PIGC, PIK3CD, PINK1, PKLR, PKP1, PLA2G2A, PLEKHG5, PLOD1, POGZ, PPOX, PRG4, PSEN2, PSMB4, PTCH2, PTPRC, PTPRF, PUM1, RAD54L, RBM15, RFX5, RNASEL, RNPC3, ROR1, RPE65, RYR2, SASS6, SDC3, SEMA4A, SERPINC1, SLC16A1, SLC25A24, SLC2A1, SLC30A10, SLC35A3, SLC45A1, SLC6A17, SLC6A9, SLC9A1, SNIP1, SPRTN, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TACSTD2, TARS2, TBX15, TBX19, TCHH, TLR5, TNNT2, TRIT1, TSEN15, UBE2T, USH2A, VANGL1, VANGL2, VPS13D, WARS2, WNT2B, YY1AP1, ZMPSTE24, ZNF644, ZNF687,
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)
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)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADPRHL2 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (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)
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)
ANGPTL3 Hypobetalipoproteinemia, familial, 2, 605019 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATF6 Achromatopsia 7, 616517 (3)
ATP13A2 Kufor-Rakeb syndrome, 606693 (3)
Spastic paraplegia 78, autosomal recessive, 617225 (3)
BCL10 {Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300 (3)
{Mesothelioma, somatic}, 156240 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Sezary syndrome, somatic} (3)
?Immunodeficiency 37, 616098 (3)
BRDT ?Spermatogenic failure 21, 617644 (3)
BSND Bartter syndrome, type 4a, 602522 (3)
Sensorineural deafness with mild renal dysfunction, 602522 (3)
C1QA C1q deficiency, 613652 (3)
C1QC C1q deficiency, 613652 (3)
C8A C8 deficiency, type I, 613790 (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)
CD244 {Rheumatoid arthritis, susceptibility to}, 180300 (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)
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)
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)
COL11A1 Fibrochondrogenesis 1, 228520 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 (3)
?Stickler syndrome, type V, 614284 (3)
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)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTRC {Pancreatitis, chronic, susceptibility to}, 167800 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (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)
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)
DOCK7 Epileptic encephalopathy, early infantile, 23, 615859 (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)
ECE1 {Hypertension, essential, susceptibility to}, 145500 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
EPB41 Elliptocytosis-1, 611804 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPHX1 ?Hypercholanemia, familial, 607748 (3)
EPRS Leukodystrophy, hypomyelinating, 15, 617951 (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)
FCGR2C Thrombocytopenic purpura, autoimmune, 188030 (1)
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)
FUCA1 Fucosidosis, 230000 (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)
GJA8 Cataract 1, multiple types, 116200 (3)
GJB4 Erythrokeratodermia variabilis et progressiva 2, 617524 (3)
GNAT2 Achromatopsia 4, 613856 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
GREM2 Tooth agenesis, selective, 9, 617275 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HFM1 Premature ovarian failure 9, 615724 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
IGSF3 ?Lacrimal duct defect, 149700 (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)
IRF6 {Orofacial cleft 6}, 608864 (3)
Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KCNA2 Epileptic encephalopathy, early infantile, 32, 616366 (3)
KCND3 Brugada syndrome 9, 616399 (3)
Spinocerebellar ataxia 19, 607346 (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)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (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)
LHX4 Pituitary hormone deficiency, combined, 4, 262700 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
LYST Chediak-Higashi syndrome, 214500 (3)
MACF1 Lissencephaly 9 with complex brainstem malformation, 618325 (3)
MAD2L2 ?Fanconi anemia, complementation group V, 617243 (3)
MASP2 MASP2 deficiency, 613791 (3)
MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
MFN2 Hereditary motor and sensory neuropathy VIA, 601152 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MPL Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
Thrombocythemia 2, 601977 (3)
Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
MPZ Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)
Charcot-Marie-Tooth disease, type 1B, 118200 (3)
Charcot-Marie-Tooth disease, type 2I, 607677 (3)
Charcot-Marie-Tooth disease, type 2J, 607736 (3)
Hypomyelinating neuropathy, congenital, 2, 618184 (3)
Dejerine-Sottas disease, 145900 (3)
Roussy-Levy syndrome, 180800 (3)
MR1 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MYSM1 Bone marrow failure syndrome 4, 618116 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NCSTN Acne inversa, familial, 1, 142690 (3)
NDUFS2 Mitochondrial complex I deficiency, nuclear type 6, 618228 (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)
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)
ORC1 Meier-Gorlin syndrome 1, 224690 (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)
PEX14 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (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)
PIK3CD Immunodeficiency 14, 615513 (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)
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)
POGZ White-Sutton syndrome, 616364 (3)
PPOX Porphyria variegata, 176200 (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)
PTCH2 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Medulloblastoma, somatic, 155255 (3)
PTPRC {Hepatitis C virus, susceptibility to}, 609532 (3)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
PUM1 Spinocerebellar ataxia 47, 617931 (3)
RAD54L Adenocarcinoma, colonic, somatic (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
{Breast cancer, invasive ductal}, 114480 (3)
RBM15 Megakaryoblastic leukemia, acute (2)
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RNASEL Prostate cancer 1, 601518 (3)
RNPC3 ?Growth hormone deficiency, isolated, type V, 618160 (3)
ROR1 ?Deafness, autosomal recessive 108, 617654 (3)
RPE65 Leber congenital amaurosis 2, 204100 (3)
Retinitis pigmentosa 20, 613794 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SASS6 ?Microcephaly 14, primary, autosomal recessive, 616402 (3)
SDC3 {Obesity, association with}, 601665 (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)
SLC25A24 Fontaine progeroid syndrome, 612289 (3)
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)
Dystonia 9, 601042 (3)
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)
SLC30A10 Hypermanganesemia with dystonia 1, 613280 (3)
SLC35A3 ?Arthrogryposis, mental retardation, and seizures, 615553 (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)
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (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)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)
TARS2 ?Combined oxidative phosphorylation deficiency 21, 615918 (3)
TBX15 Cousin syndrome, 260660 (3)
TBX19 Adrenocorticotropic hormone deficiency, 201400 (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)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TSEN15 Pontocerebellar hypoplasia, type 2F, 617026 (3)
UBE2T Fanconi anemia, complementation group T, 616435 (3)
USH2A Retinitis pigmentosa 39, 613809 (3)
Usher syndrome, type 2A, 276901 (3)
VANGL1 Caudal regression syndrome, 600145 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
VANGL2 Neural tube defects, 182940 (3)
VPS13D Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
WARS2 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3)
WNT2B Diarrhea 9, 618168 (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)
ZNF687 Paget disease of bone 6, 616833 (3)

Genes at Clinical Genomics Database

ABCA4, ABCD3, ACTN2, ADAMTSL4, ADAR, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALPL, AMPD1, AMPD2, ANGPTL3, ASPM, ATF6, ATP13A2, BCL10, BSND, C1QA, C1QC, C8A, CACNA1S, CAMTA1, CASQ2, CFH, CHIT1, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COL11A1, COL8A2, COL9A2, COPA, CPT2, CR1, CSF3R, DARS2, DDOST, DDR2, DDX59, DHDDS, DNAJC6, DOCK7, DPYD, DSTYK, ECE1, EDARADD, EMC1, EPB41, EPHX1, F5, FLG, FLVCR1, FMN2, FMO3, FUCA1, GJA8, GJB4, GNAT2, GNPAT, GORAB, H6PD, HFM1, HMCN1, HSPG2, IGSF3, IRF6, ISG15, KCNA2, KCND3, KCNQ4, KIF14, KIF1B, KISS1, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LHX4, LYST, MAP3K6, MASP2, MFN2, MMACHC, MPL, MPZ, MR1, MTR, MUTYH, NCF2, NCSTN, NDUFS2, NEK2, NEXN, NLRP3, NOTCH2, NPHP4, NPHS2, NTRK1, ORC1, PCSK9, PER3, PEX14, PGM1, PHGDH, PIK3CD, PINK1, PKLR, PKP1, PLEKHG5, PLOD1, POGZ, PPOX, PRG4, PSEN2, PTCH2, PTPRC, PTPRF, RFX5, RNASEL, RPE65, RYR2, SASS6, SEMA4A, SERPINC1, SLC16A1, SLC2A1, SLC30A10, SLC35A3, SLC41A1, SLC6A17, SLC9A1, SNIP1, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TACSTD2, TARS2, TBX15, TBX19, TNNT2, UBE2T, USH2A, VANGL1, VANGL2, ZMPSTE24, ZNF644, ZNF687,
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
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
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
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AMPD1 Myoadenylate deaminase deficiency
AMPD2 Pontocerebellar hypoplasia type 9
Spastic paraplegia 63
ANGPTL3 Hypobetalipoproteinemia, familial, 2
ASPM Microcephaly, primary autosomal recessive, 5
ATF6 Achromatopsia 7
ATP13A2 Parkinson disease 9 (Kufor-Rakeb syndrome)
Ceroid lipofuscinosis, neuronal, 12
BCL10 Immunodeficiency 37
BSND Bartter syndrome, type 4A
Sensorineural deafness with mild renal dysfunction
C1QA C1q deficiency
C1QC C1q deficiency
C8A Complement component 8 deficiency, type I
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
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
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
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
COL9A2 Stickler syndrome, Type V
COPA Autoimmune interstitial lung, joint, and kidney disease
CPT2 Carnitine palmitoyltransferase II deficiency
CR1 Blood group, Knops system
CSF3R Neutrophilia, hereditary
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DDOST Congenital disorder of glycosylation, type Ir
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type
DDX59 Orofaciodigital syndrome V
DHDDS Retinitis pigmentosa 59
DNAJC6 Juvenile Parkinsonism, autosomal recessive
DOCK7 Epilepitic encephalopathy, early infantile, 23
DPYD 5-fluorouracil toxicity
DSTYK Congenital anomalies of the kidney and urinary tract 1
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EDARADD Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation
EPB41 Ellipsocytosis 1
EPHX1 Hypercholanemia, familial
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FLG Icthyosis vulgaris
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
FMN2 Mental retardation, autosomal recessive, 47
FMO3 Trimethylaminuria
FUCA1 Fucosidosis
GJA8 Cataract 1, multiple types
GJB4 Erythrokeratodermia variabilis et progressiva
Erythrokeratodermia variabilis with erythema gyratum repens
GNAT2 Achromatopsia 4
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB Geroderma osteodysplasticum
H6PD Cortisone reductase deficiency
HFM1 Premature ovarian failure 9
HMCN1 Macular degeneration, age-related, 1
HSPG2 Schwartz-Jampel syndrome, type 1
IGSF3 Lacrimal duct defect
IRF6 Popliteal pterygium syndrome
van der Woude syndrome 1
Orofacial cleft 6
ISG15 Immunodeficiency 38, with basal ganglia calcification
KCNA2 Epileptic encephalopathy, early infantile 32
KCND3 Brugada syndrome 9
KCNQ4 Deafness, autosomal dominant 2A
KIF14 Meckel syndrome 12
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
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
LHX4 Pituitary hormone deficiency, combined, 4
LYST Chediak-Higashi syndrome
MAP3K6 Familial gastric cancer
MASP2 MASP2 deficiency
MFN2 Charcot-Marie-Tooth disease, type 2A2
Hereditary motor and sensory neuropathy VIA
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MPL Thrombocythemia 2
Amegakaryocytic thrombocytopenia
MPZ Dejerine-Sottas disease
Charcot-Marie-Tooth disease, dominant intermediate 3
Charcot-Marie-Tooth disease, axonal, type 2J
Charcot-Marie-Tooth disease, axonal, type 2I
Neuropathy, congenital hypomyelinating
Roussy-Levy syndrome
Charcot-Marie-Tooth disease, type 1B
MR1 Paroxysmal nonkinesigenic dyskinesia
MTR Methylmalonic acidemia, cblG type
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NCSTN Acne inversa, familial 1
NDUFS2 Mitochondrial complex I deficiency
NEK2 Retinitis pigmentosa 67
NEXN Cardiomyopathy, familial hypertrophic, 20
Cardiomyopathy, dilated, 1CC
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
NPHS2 Nephrotic syndrome, type 2
NTRK1 Insensitivity to pain, congenital, with anhidrosis
ORC1 Meier-Gorlin syndrome 1
PCSK9 Hypercholesterolemia, familial, 3
PER3 Advanced sleep phase syndrome, familial, 3
PEX14 Zellweger syndrome
Peroxisome biogenesis factor disorder 14
PGM1 Congenital disorder of glycosylation, type It
PHGDH Phosphoglycerate dehydrogenase deficiency
PIK3CD Immunodeficiency 14
PINK1 Parkinson disease 6, autosomal recessive, early onset
PKLR Pyruvate kinase deficiency
PKP1 Ectodermal dysplasia/skin fragility syndrome
PLEKHG5 Charcot-Marie-Tooth disease C, recessive intermediate
Spinal muscular atrophy, distal, autosomal recessive, 4
PLOD1 Ehlers-Danlos syndrome type VI
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
PPOX Porphyria variegata
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2 Cardiomyopathy, dilated, 1V
Peripartum/pregnancy-associated cardiomyopathy
PTCH2 Basal cell nevus syndrome
PTPRC Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
RFX5 Bare lymphocyte syndrome, type II
RNASEL Prostate cancer, hereditary, 1
RPE65 Retinitis pigmentosa 20
Leber congenital amaurosis 2
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SASS6 Microcephaly 14, primary, autosomal recessive
SEMA4A Cone-rod dystrophy 10
Retinitis pigmentosa 35
SERPINC1 Antithrombin III deficiency
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC2A1 GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
Epilepsy, idiopathic generalized, susceptibility to, 12
Stomatin-deficient cryohydrocytosis with neurologic defects
SLC30A10 Hypermanganesemia with dystonia, polycythemia, and cirrhosis
SLC35A3 Arthrogryposis, mental retardation, and seizures
SLC41A1 Nephronophthisis-like ciliopathy
SLC6A17 Mental retardation, autosomal recessive 48
SLC9A1 Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
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
TACSTD2 Corneal dystrophy, gelatinous drop-like
TARS2 Combined oxidative phosphorylation deficiency 21
TBX15 Cousin syndrome
TBX19 Adrenocorticotropic hormone deficiency
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
UBE2T Fanconi anemia, complementation group T
USH2A Usher syndrome, type 2A
VANGL1 Caudal regression syndrome
Neural tube defects
VANGL2 Neural tube defects
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal
ZNF644 Myopia 21, autosomal dominant
ZNF687 Paget disease of bone 6

Genes at HGMD

Summary

Number of Variants: 5661
Number of Genes: 911

Export to: CSV

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 chh6738_annovar 1 rs3000859
dbSNP Clinvar 		12776344 5159.16 A T PASS 0|1 64 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 chh6738_annovar 1 rs3010876
dbSNP Clinvar 		12779560 6569.16 T C PASS 0|1 64 SYNONYMOUS_CODING LOW None 0.84944 0.84940 0.14324 None None None None None None AADACL3|0.001467435|92.94%
View chh6738_annovar 1 rs3010877
dbSNP Clinvar 		12779618 6631.16 T C PASS 0|1 60 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 chh6738_annovar 1 rs7513079
dbSNP Clinvar 		12785494 3611.16 G T PASS 0|1 55 NON_SYNONYMOUS_CODING MODERATE None 0.68231 0.68230 0.33289 0.26 0.22 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 chh6738_annovar 1 rs3112831
dbSNP Clinvar 		94544234 4590.16 T C PASS 0|0 42 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 -0.19 None None None None None None ABCA4|0.440503373|18.63%
View chh6738_annovar 1 rs117400594
dbSNP Clinvar 		94528138 1345.16 G A PASS 0|1 35 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00015 None None None None None None ABCA4|0.440503373|18.63%
View chh6738_annovar 1 rs1800549
dbSNP Clinvar 		94496053 864.13 G A PASS 0|0 27 NON_SYNONYMOUS_CODING MODERATE None 0.00819 0.00819 0.00015 0.09 0.01 1.04 None None None None None None ABCA4|0.440503373|18.63%
View chh6738_annovar 1 rs1801359
dbSNP Clinvar 		94467447 1788.13 G A PASS 0|0 40 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.14601 None None None None None None ABCA4|0.440503373|18.63%
View chh6738_annovar 1 rs1801555
dbSNP Clinvar 		94466659 332.13 A G PASS 0|0 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 None None None None None None ABCA4|0.440503373|18.63%

ABCB10
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs3738187
dbSNP Clinvar 		229683264 729.13 G A PASS 0|0 46 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs16946
dbSNP Clinvar 		94930345 996.13 G A PASS 0|0 38 SYNONYMOUS_CODING LOW None 0.27995 0.28000 0.37221 None None None None None None ABCD3|0.51958761|15.03%

AC114494.1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs10047085
dbSNP Clinvar 		31902418 758.14 A G PASS 0|0 33 NON_SYNONYMOUS_CODING MODERATE None 0.43051 0.43050 0.40451 0.10 -2.26 None None None None None None SERINC2|0.042418006|64.98%

ACBD3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2306120
dbSNP Clinvar 		226352498 2482.16 T G PASS 1|0 70 NON_SYNONYMOUS_CODING MODERATE None 0.53115 0.53120 0.40105 0.02 0.24 1.77 None None None None None None ACBD3|0.308663424|26.94%

ACOT11
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs1702003
dbSNP Clinvar 		55060362 317.14 G A PASS 0|0 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.25539 0.25540 0.17154 0.95 0.00 0.47 None None None None None None ACOT11|0.083532045|54.52%
View chh6738_annovar 1 rs2304305
dbSNP Clinvar 		55062960 1239.13 G A PASS 0|0 37 NON_SYNONYMOUS_CODING MODERATE None 0.03035 0.03035 0.00115 0.23 0.01 1.47 None None None None None None ACOT11|0.083532045|54.52%

ACP6
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2153463
dbSNP Clinvar 		147124310 6867.16 T G PASS 0|1 60 SYNONYMOUS_CODING LOW None 0.27434 None None None None None None ACP6|0.053267553|61.72%
View chh6738_annovar 1 rs1344
dbSNP Clinvar 		147119273 3202.19 G A PASS 0|1 52 SYNONYMOUS_CODING LOW None 0.47923 0.47920 0.46886 None None None None None None ACP6|0.053267553|61.72%

ACTL8
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs694214
dbSNP Clinvar 		18149510 3353.07 G T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.30571 0.30570 0.34761 0.18 0.01 -1.30 None None None None None None ACTL8|0.001905215|91.23%
View chh6738_annovar 1 rs3795322
dbSNP Clinvar 		18152646 1398.13 C T PASS 0|0 41 NON_SYNONYMOUS_CODING MODERATE None 0.00459 0.00459 0.10 0.57 1.71 None None None None None None ACTL8|0.001905215|91.23%
View chh6738_annovar 1 rs2296035
dbSNP Clinvar 		18149566 6382.16 C A PASS 1|1 54 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.42196 None None None None None None ACTL8|0.001905215|91.23%

ACTN2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs80257412
dbSNP Clinvar 		236910983 1055.13 G A PASS 0|0 35 NON_SYNONYMOUS_CODING MODERATE None 0.02576 0.02576 0.00023 0.12 0.99 6.02 None None None None None None ACTN2|0.55570405|13.49%
View chh6738_annovar 1 rs2288599
dbSNP Clinvar 		236898942 683.13 G C PASS 0|0 31 SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.00054 None None None None None None ACTN2|0.55570405|13.49%
View chh6738_annovar 1 rs12063382
dbSNP Clinvar 		236925844 1655.16 G A PASS 1|0 49 SYNONYMOUS_CODING LOW None 0.19609 0.19610 0.15570 None None None None None None ACTN2|0.55570405|13.49%

ACTRT2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs4576609
dbSNP Clinvar 		2938265 1637.9 C T PASS 1|0 33 SYNONYMOUS_CODING LOW None 0.20168 0.20170 0.16615 None None None None None None ACTRT2|0.018444598|74.99%
View chh6738_annovar 1 rs149188311
dbSNP Clinvar 		2939331 1491.13 G A PASS 0|0 40 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.10 0.00 1.61 0.25 0.89221 D None None None None ACTRT2|0.018444598|74.99%
View chh6738_annovar 1 rs3795262
dbSNP Clinvar 		2938697 2942.9 T G PASS 1|0 55 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.17515 None None None None None None ACTRT2|0.018444598|74.99%

ADAMTS4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs33941127
dbSNP Clinvar 		161168004 1005.68 C T PASS 0|0 43 SYNONYMOUS_CODING LOW None 0.36502 0.36500 0.25857 None None None None None None ADAMTS4|0.218094914|34.6%,NDUFS2|0.321653173|26.03%
View chh6738_annovar 1 rs41270041
dbSNP Clinvar 		161161284 1257.16 G C PASS 1|0 41 NON_SYNONYMOUS_CODING MODERATE None 0.09964 0.09964 0.09465 0.23 0.01 -1.00 None None None None None None ADAMTS4|0.218094914|34.6%
View chh6738_annovar 1 rs34009675
dbSNP Clinvar 		161165424 1767.16 A G PASS 1|0 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.01622 None None None None None None ADAMTS4|0.218094914|34.6%
View chh6738_annovar 1 rs4233367
dbSNP Clinvar 		161163037 4117.16 T C PASS 1|0 42 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.39720 1.00 0.00 0.23 None None None None None None ADAMTS4|0.218094914|34.6%

ADAMTSL4
Omim - GeneCards - NCBI
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View chh6738_annovar 1 rs41317515
dbSNP Clinvar 		150526044 2707.16 G C PASS 0|0 40 NON_SYNONYMOUS_CODING MODERATE None 0.52836 0.52840 0.45295 0.61 0.00 -1.20 None None None None None None ADAMTSL4|0.034322056|67.68%
View chh6738_annovar 1 rs6681639
dbSNP Clinvar 		150526406 514.13 C T PASS 0|0 26 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.35545 None None None None None None ADAMTSL4|0.034322056|67.68%
View chh6738_annovar 1 rs76075180
dbSNP Clinvar 		150526393 546.13 G A PASS 0|0 26 NON_SYNONYMOUS_CODING MODERATE None 0.03235 0.03235 0.00139 0.21 0.00 1.58 None None None None None None ADAMTSL4|0.034322056|67.68%

ADAR
Omim - GeneCards - NCBI
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View chh6738_annovar 1 rs2229857
dbSNP Clinvar 		154573967 1156.13 T C PASS 0|0 39 NON_SYNONYMOUS_CODING MODERATE None 0.62260 0.62260 0.39213 0.67 0.00 -1.24 None None None None None None ADAR|0.149816666|43.06%

ADCY10
Omim - GeneCards - NCBI
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View chh6738_annovar 1 rs203795
dbSNP Clinvar 		167817639 2761.9 A G PASS 0|1 47 SYNONYMOUS_CODING LOW None 0.82209 0.82210 0.22674 None None None None None None ADCY10|0.02878338|70.03%

ADORA3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2229155
dbSNP Clinvar 		112042632 5597.16 A G PASS 1|0 51 None None None 0.77356 0.77360 0.20998 None None None None None None ADORA3|0.017319131|75.65%

ADPRHL2
Omim - GeneCards - NCBI
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View chh6738_annovar 1 rs768000
dbSNP Clinvar 		36556867 713.16 C T PASS 0|1 15 SYNONYMOUS_CODING LOW None 0.07368 0.07368 0.02038 None None None None None None ADPRHL2|0.203526364|36.3%

AGBL4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs3934240
dbSNP Clinvar 		49511424 4190.92 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.22504 0.22500 0.17652 None None None None None None AGBL4|0.894642567|3.56%

AGL
Omim - GeneCards - NCBI
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View chh6738_annovar 1 rs17121464
dbSNP Clinvar 		100340787 1192.13 G A PASS 0|0 33 NON_SYNONYMOUS_CODING MODERATE None 0.07967 0.07967 0.00238 0.62 0.00 -0.87 None None None None None None AGL|0.644094308|10.32%
View chh6738_annovar 1 rs17121403
dbSNP Clinvar 		100335977 706.16 A G PASS 1|0 30 NON_SYNONYMOUS_CODING MODERATE None 0.04832 0.04832 0.04213 0.54 0.00 0.85 None None None None None None AGL|0.644094308|10.32%

AGMAT
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs11580170
dbSNP Clinvar 		15909744 233.13 C T PASS 0|0 30 NON_SYNONYMOUS_CODING MODERATE None 0.27236 0.27240 0.34146 0.60 0.04 1.28 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View chh6738_annovar 1 rs6429757
dbSNP Clinvar 		15909850 2729.16 C G PASS 1|0 26 NON_SYNONYMOUS_CODING MODERATE None 0.63319 0.63320 0.34615 1.00 0.00 -1.38 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View chh6738_annovar 1 rs11544523
dbSNP Clinvar 		15904318 1473.13 C T PASS 0|0 41 SYNONYMOUS_CODING LOW None 0.23742 0.23740 0.29325 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%

AGO1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2296470
dbSNP Clinvar 		36359669 1338.14 A G PASS 0|1 34 SYNONYMOUS_CODING LOW None 0.30671 0.30670 0.12448 None None None None None None AGO1|0.921712667|2.94%

AGO4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs778523298
dbSNP Clinvar 		36298165 1039.13 T TA... PASS 0|0 34 None None None None None None None None None AGO4|0.5439177|14.04%
View chh6738_annovar 1 rs4652895
dbSNP Clinvar 		36316571 1527.16 A C PASS 1|0 42 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.34253 None None None None None None AGO4|0.5439177|14.04%

AGRN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs4275402
dbSNP Clinvar 		990280 1215.16 C T PASS 1|0 13 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.42085 None None None None None None AGRN|0.026450221|71.13%

AGT
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs4762
dbSNP Clinvar 		230845977 658.13 G A PASS 0|0 36 NON_SYNONYMOUS_CODING MODERATE None 0.10164 0.10160 0.10926 0.01 1.00 4.30 None None None None None None AGT|0.061155796|59.54%
View chh6738_annovar 1 rs699
dbSNP Clinvar 		230845794 4100.16 A G PASS 0|1 40 NON_SYNONYMOUS_CODING MODERATE None 0.70507 0.70510 0.43834 1.00 0.00 -2.40 None None None None None None AGT|0.061155796|59.54%

AHCTF1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2642990
dbSNP Clinvar 		247048834 4228.16 T C PASS 0|0 55 NON_SYNONYMOUS_CODING MODERATE None 0.68171 0.68170 0.36973 1.00 0.00 -1.63 None None None None None None AHCTF1|0.093190661|52.56%

AHDC1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2076457
dbSNP Clinvar 		27876482 5655.16 C A PASS 0|1 48 SYNONYMOUS_CODING LOW None 0.79293 0.79290 0.28311 None None None None None None AHDC1|0.445284553|18.42%

AIM1L
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs117202066
dbSNP Clinvar 		26672506 740.16 G A PASS 1|0 20 None None None 0.03135 0.03135 0.00059 0.00 0.99 0.36 None None None None None None AIM1L|0.109158012|49.38%
View chh6738_annovar 1 rs36024412
dbSNP Clinvar 		26670444 703.13 G T PASS 0|0 30 NON_SYNONYMOUS_CODING MODERATE None 0.20647 0.20650 0.00 0.98 5.40 None None None None None None AIM1L|0.109158012|49.38%
View chh6738_annovar 1 rs34370465
dbSNP Clinvar 		26670609 1020.13 C T PASS 0|0 38 None None None 0.20487 0.20490 0.16 0.99 1.24 None None None None None None AIM1L|0.109158012|49.38%

AJAP1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs1061968
dbSNP Clinvar 		4772053 142.05 T C PASS 0|1 2 SYNONYMOUS_CODING LOW None 0.52676 0.52680 0.41109 None None None None None None AJAP1|0.079694333|55.25%
View chh6738_annovar 1 rs78250331
dbSNP Clinvar 		4772716 2206.13 C T PASS 0|0 74 SYNONYMOUS_CODING LOW None 0.05970 0.05970 0.01184 None None None None None None AJAP1|0.079694333|55.25%
View chh6738_annovar 1 rs242056
dbSNP Clinvar 		4772717 4158.9 G A PASS 1|0 73 NON_SYNONYMOUS_CODING MODERATE None 0.36082 0.36080 0.47593 0.18 0.89 2.79 None None None None None None AJAP1|0.079694333|55.25%

AK5
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2815311
dbSNP Clinvar 		77759578 1075.13 A G PASS 0|0 37 SYNONYMOUS_CODING LOW None 0.11502 0.11500 0.16446 None None None None None None AK5|0.166834889|40.71%

AKNAD1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs1333130
dbSNP Clinvar 		109363232 3007.16 T C PASS 1|0 46 SYNONYMOUS_CODING LOW None 0.38638 0.38640 0.24596 None None None None None None AKNAD1|0.003173142|88.35%

AKR7A3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2231198
dbSNP Clinvar 		19612477 941.13 C T PASS 0|0 37 NON_SYNONYMOUS_CODING MODERATE None 0.46326 0.46330 0.36344 0.07 0.05 2.37 None None None None None None AKR7A3|0.013654573|78.1%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2230708
dbSNP Clinvar 		19201956 3383.16 A G PASS 1|1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View chh6738_annovar 1 rs2230707
dbSNP Clinvar 		19202896 3915.16 G A PASS 1|1 38 SYNONYMOUS_CODING LOW None 0.51597 0.51600 0.45471 None None None None None None ALDH4A1|0.121498662|47.22%
View chh6738_annovar 1 rs7550938
dbSNP Clinvar 		19202917 4859.16 T C PASS 1|1 36 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View chh6738_annovar 1 rs2230706
dbSNP Clinvar 		19202926 4506.16 T C PASS 1|1 39 SYNONYMOUS_CODING LOW None 0.66014 0.66010 0.37865 None None None None None None ALDH4A1|0.121498662|47.22%

ALPL
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs3200254
dbSNP Clinvar 		21894735 3480.9 T C PASS 1|0 57 NON_SYNONYMOUS_CODING MODERATE None 0.26697 0.26700 0.15877 1.00 0.00 0.63 None None None None None None ALPL|0.999977593|0.11%
View chh6738_annovar 1 rs3200255
dbSNP Clinvar 		21900171 2970.9 A G PASS 1|0 47 SYNONYMOUS_CODING LOW None 0.27157 0.27160 0.16231 None None None None None None ALPL|0.999977593|0.11%

AMPD1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs536037850
dbSNP Clinvar 		115222296 1221.13 G C PASS 0|0 40 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None AMPD1|0.217023192|34.75%

AMPD2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs28362581
dbSNP Clinvar 		110163879 408.16 G A PASS 1|0 21 NON_SYNONYMOUS_CODING MODERATE None 0.23622 0.23620 0.12925 0.10 0.02 2.77 None None None None None None AMPD2|0.183477715|38.6%

ANGPTL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs12563308
dbSNP Clinvar 		63069711 1589.16 T C PASS 1|0 52 SYNONYMOUS_CODING LOW None 0.05591 0.05591 0.03861 None None None None None None DOCK7|0.286627165|28.59%,ANGPTL3|0.112342203|48.8%

ANKRD34A
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs372139711
dbSNP Clinvar 		145474210 1725.16 C A PASS 1|0 43 SYNONYMOUS_CODING LOW None None None None None None None ANKRD34A|0.19061906|37.75%

ANKRD35
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs11579366
dbSNP Clinvar 		145562293 2773.16 G C PASS 0|0 40 NON_SYNONYMOUS_CODING MODERATE None 0.33906 0.33910 0.48239 0.02 0.60 3.94 None None None None None None ANKRD35|0.119527049|47.52%
View chh6738_annovar 1 rs41315701
dbSNP Clinvar 		145562087 1941.16 G A PASS 0|0 40 NON_SYNONYMOUS_CODING MODERATE None 0.12360 0.12360 0.16841 0.14 0.00 None None None None None None ANKRD35|0.119527049|47.52%
View chh6738_annovar 1 rs6670984
dbSNP Clinvar 		145561594 2917.16 C T PASS 1|1 39 NON_SYNONYMOUS_CODING MODERATE None 0.56470 0.56470 0.42204 0.52 0.00 None None None None None None ANKRD35|0.119527049|47.52%
View chh6738_annovar 1 rs10910824
dbSNP Clinvar 		145562881 4819.16 T C PASS 1|1 50 SYNONYMOUS_CODING LOW None 0.58886 0.58890 0.45574 None None None None None None ANKRD35|0.119527049|47.52%

ANP32E
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs68136184,rs56692627
dbSNP Clinvar 		150199039 2738.9 CT... C PASS 1|0 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.35064 0.35060 0.20257 None None None None None None ANP32E|0.463617374|17.49%
View chh6738_annovar 1 rs7522034
dbSNP Clinvar 		150199123 2663.9 G T PASS 1|0 55 SYNONYMOUS_CODING LOW None 0.60204 0.60200 0.44649 0.44 None None None None None None ANP32E|0.463617374|17.49%

ANXA9
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs7532008
dbSNP Clinvar 		150960350 3765.92 A C PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

APH1A
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2275778
dbSNP Clinvar 		150239478 2056.13 T G PASS 0|0 74 SYNONYMOUS_CODING LOW None 0.02596 0.02596 0.00073 None None None None None None APH1A|0.680054905|9.08%

APOBEC4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs10911391
dbSNP Clinvar 		183617094 3404.16 G A PASS 0|1 83 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.06997 0.45 0.00 -1.54 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs10911390
dbSNP Clinvar 		183616884 3824.16 C T PASS 0|1 109 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.06997 0.03 0.03 0.77 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs16861394
dbSNP Clinvar 		183617693 1251.16 G A PASS 0|1 49 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.06997 0.02 0.95 4.23 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs12045762
dbSNP Clinvar 		183617413 2132.16 T C PASS 0|1 72 SYNONYMOUS_CODING LOW None 0.09445 0.09445 0.06989 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs10911392
dbSNP Clinvar 		183617311 2338.16 T A PASS 0|1 52 SYNONYMOUS_CODING LOW None 0.11082 0.11080 0.08627 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs1174658
dbSNP Clinvar 		183617105 3060.16 A G PASS 0|1 85 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.42050 0.59 0.00 -0.08 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%
View chh6738_annovar 1 rs1174657
dbSNP Clinvar 		183616926 4276.16 T C PASS 0|1 120 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.42050 0.25 0.00 -1.69 None None None None None None RGL1|0.268166918|30.02%,APOBEC4|0.023564104|72.37%

AQP10
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs6668968
dbSNP Clinvar 		154293675 2109.13 G A PASS 0|0 59 NON_SYNONYMOUS_CODING MODERATE None 0.27316 0.27320 0.28472 0.70 0.00 1.61 None None None None None None AQP10|0.038342295|66.35%
View chh6738_annovar 1 rs6685323
dbSNP Clinvar 		154295592 1405.13 C T PASS 0|0 39 NON_SYNONYMOUS_CODING MODERATE None 0.29333 0.29330 0.29986 1.00 0.00 -0.48 None None None None None None AQP10|0.038342295|66.35%
View chh6738_annovar 1 rs1194610
dbSNP Clinvar 		154296076 2102.16 T C PASS 1|0 48 SYNONYMOUS_CODING LOW None 0.27516 0.27520 0.31755 None None None None None None AQP10|0.038342295|66.35%

ARHGAP30
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2774279
dbSNP Clinvar 		161017556 377.13 C T PASS 0|0 39 SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.28464 None None None None None None ARHGAP30|0.052332049|61.97%
View chh6738_annovar 1 rs3813609
dbSNP Clinvar 		161019040 1330.16 G C PASS 0|0 29 NON_SYNONYMOUS_CODING MODERATE None 0.39597 0.39600 0.49054 0.25 0.08 0.09 None None None None None None ARHGAP30|0.052332049|61.97%

ARHGEF10L
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2270976
dbSNP Clinvar 		18023690 1262.27 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.82268 0.82270 0.20487 1.00 0.00 0.29 None None None None None None ARHGEF10L|0.158620294|41.79%

ARHGEF11
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2275199
dbSNP Clinvar 		156909695 1411.13 G A PASS 0|0 38 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.16831 None None None None None None ARHGEF11|0.107056542|49.78%
View chh6738_annovar 1 rs868188
dbSNP Clinvar 		156907115 4893.8 T C PASS 1|1 51 NON_SYNONYMOUS_CODING MODERATE None 0.40655 0.40650 0.31170 0.24 0.01 -0.45 None None None None None None ARHGEF11|0.107056542|49.78%

ARHGEF16
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs61734742
dbSNP Clinvar 		3395174 1671.13 C A PASS 0|0 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09125 0.09125 0.05199 None None None None None None ARHGEF16|0.026734333|71.01%

ARHGEF19
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs221051
dbSNP Clinvar 		16532848 1679.16 A G PASS 1|0 59 None None None 0.00739 0.26840 0.22681 None None None None None None ARHGEF19|0.036884859|66.83%
View chh6738_annovar 1 rs221057
dbSNP Clinvar 		16534255 1336.16 C G PASS 1|0 33 NON_SYNONYMOUS_CODING MODERATE None 0.26697 0.26700 0.23212 0.12 0.02 1.62 None None None None None None ARHGEF19|0.036884859|66.83%
View chh6738_annovar 1 rs221058
dbSNP Clinvar 		16534646 501.16 C G PASS 1|0 19 NON_SYNONYMOUS_CODING MODERATE None 0.24401 0.24400 0.20652 0.01 0.01 2.40 None None None None None None ARHGEF19|0.036884859|66.83%
View chh6738_annovar 1 rs221050
dbSNP Clinvar 		16532803 2106.16 G A PASS 1|0 70 SYNONYMOUS_CODING LOW None 0.26877 0.26880 0.22872 None None None None None None ARHGEF19|0.036884859|66.83%

ARNT
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs2228099
dbSNP Clinvar 		150808889 5347.16 C G PASS 1|1 74 SYNONYMOUS_CODING LOW None 0.47105 0.47100 0.41542 None None None None None None ARNT|0.76129354|6.81%

ARPC5
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 1 rs16861256
dbSNP Clinvar 		183592594 1161.16 A G PASS 0|1 38 None None None 0.10723 0.10720 0.05 None None None None None None ARPC5|0.271917354|29.75%