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Genes:
AARS2, ABCF1, ABHD16A, ABT1, ACAT2, ADGB, AGER, AHI1, AIF1, AIM1, AK9, AKAP12, AKAP7, AL078585.1, AL583828.1, ALDH5A1, ALDH8A1, ANKRD6, ANKS1A, APOBEC2, APOM, ARHGAP18, ARID1B, ARMC12, ARMC2, ASCC3, ATXN1, B3GAT2, BACH2, BAI3, BCLAF1, BEND6, BMP6, BRD2, BTN1A1, BTNL2, C4A, C4B, C6orf1, C6orf10, C6orf100, C6orf118, C6orf120, C6orf132, C6orf141, C6orf15, C6orf164, C6orf211, C6orf229, C6orf47, C6orf89, CAGE1, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDC5L, CDKAL1, CDKN1A, CDSN, CENPQ, CENPW, CEP57L1, CFB, CLDN20, CLIC5, CLPSL1, CLPSL2, CNKSR3, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CSNK2B, CTAGE9, CTGF, CUL7, CUL9, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DDX43, DEF6, DEK, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, DXO, ECT2L, EDN1, EHMT2, ELOVL2, ELOVL4, ENPP1, ENPP3, ENPP4, ENPP5, EPHA7, EPM2A, ERMARD, ESR1, EXOC2, EYA4, EYS, F13A1, FAM120B, FAM135A, FAM184A, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FANCE, FAXC, FBXO5, FGD2, FHL5, FIG4, FNDC1, FOXF2, FOXP4, FOXQ1, FRK, FRMD1, FUCA2, FUT9, GABBR1, GABRR1, GABRR2, GCM2, GCNT2, GFRAL, GJA1, GJB7, GJE1, GLO1, GLP1R, GLYATL3, GMDS, GMPR, GNL1, GPANK1, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPSM3, GRM4, GSTA2, GSTA5, GTF2H4, GTPBP2, GUCA1B, HACE1, HBS1L, HCG27, HCRTR2, HDGFL1, HECA, HFE, HINT3, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H1E, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AL, HIST1H2BF, HIST1H2BL, HIST1H3C, HIST1H3I, HIST1H3J, HIST1H4B, HIST1H4C, HIST1H4H, HIST1H4J, HIST1H4K, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-G, HMGA1, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HUS1B, IBTK, IER3, IFNGR1, IGF2R, IL17F, IL20RA, IP6K3, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KCNK16, KCNK17, KCNQ5, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA1244, KIAA1919, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHL31, KPNA5, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LMBRD1, LPA, LRFN2, LRP11, LRRC1, LRRC16A, LTA, LTV1, LY6G5B, LY6G6D, LY6G6F, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP7, MAPK13, MB21D1, MCCD1, MCM9, MCUR1, MDGA1, MDN1, MEP1A, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MRPL14, MRPL18, MRS2, MSH5, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUT, MYB, MYCT1, MYLIP, NCR2, NCR3, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAIN2, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, OARD1, OGFRL1, OOEP, OPRM1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR2B2, OR2B6, OR2H2, OR2J1, OR2J2, OR2J3, OR5V1, PARK2, PDCD2, PDE10A, PERP, PEX3, PEX6, PGBD1, PGC, PHF1, PHF10, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, PNRC1, POLH, POM121L2, POU3F2, POU5F1, PPARD, PPP1R14C, PPP1R18, PPP1R3G, PPT2, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTPRK, PXDC1, PXT1, QRSL1, RAB44, RAET1E, RANBP9, RARS2, REV3L, RFX6, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RMND1, RNASET2, RNF217, RNF8, RNGTT, ROS1, RP1-139D8.6, RP11-257K9.8, RPL10A, RPL7L1, RPP21, RPP40, RPS6KA2, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RUNX2, RXRB, SAMD5, SASH1, SBP1, SCAND3, SCGN, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SESN1, SFT2D1, SFTA2, SHPRH, SIRT5, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B3, SLC39A7, SLC44A4, SMOC2, SMPD2, SMPDL3A, SNAP91, SNRNP48, SOBP, SOD2, SPATS1, SRPK1, STK38, STXBP5, SUMO4, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR2, TAAR5, TAAR6, TAAR9, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TCF19, TCP10, TCP10L2, TCTE1, TCTE3, TDP2, TDRD6, TFB1M, TFEB, THBS2, TIAM2, TINAG, TJAP1, TMEM151B, TMEM170B, TMEM200A, TMEM244, TMEM63B, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML2, TREML4, TRIM10, TRIM15, TRIM31, TRIM38, TRIM39, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBR2, UFL1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VPS52, WDR27, WDR46, WISP3, WRNIP1, WTAP, XPO5, YIPF3, ZBTB12, ZBTB2, ZBTB22, ZBTB9, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF76, ZSCAN12, ZSCAN31, ZUFSP,

+ Genes associated with diseases 136

Genes at Omim

AARS2, ACAT2, AHI1, ALDH5A1, ARID1B, ATXN1, BTNL2, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, FIG4, GCM2, GCNT2, GJA1, GTPBP2, GUCA1B, HACE1, HFE, HIST1H1E, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IFNGR1, IGF2R, IL17F, IRF4, ITPR3, IYD, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LTA, MAK, MCM9, MOG, MSH5, MTO1, MUT, MYB, NCR3, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PEX3, PEX6, PHIP, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB8, PSMB9, RARS2, RFX6, RHAG, RIMS1, RIPK1, RMND1, RNASET2, RSPH3, RSPH4A, RSPH9, RUNX2, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A3, SLC26A8, SLC44A4, SMOC2, SOBP, SOD2, SUMO4, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TBP, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS, VARS2, VNN1, WISP3,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
AHI1	Joubert syndrome 3, 608629 (3)
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
C4B	C4B deficiency, 614379 (3)
CD2AP	Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
CFB	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) ?Complement factor B deficiency, 615561 (3)
CLIC5	?Deafness, autosomal recessive 103, 616042 (3)
COL10A1	Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A2	Fibrochondrogenesis 2, 614524 (3) Deafness, autosomal dominant 13, 601868 (3) Deafness, autosomal recessive 53, 609706 (3) Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1	?Epiphyseal dysplasia, multiple, 6, 614135 (3) Stickler syndrome, type IV, 614134 (3)
CUL7	3-M syndrome 1, 273750 (3)
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2	?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3)
DEK	Leukemia, acute nonlymphocytic (2)
DSE	Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDN1	{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3)
ELOVL4	Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3) Spinocerebellar ataxia 34, 133190 (3) Stargardt disease 3, 600110 (3)
ENPP1	Arterial calcification, generalized, of infancy, 1, 208000 (3) Cole disease, 615522 (3) Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) {Obesity, susceptibility to}, 601665 (3) {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ERMARD	?Periventricular nodular heterotopia 6, 615544 (3)
ESR1	{HDL response to hormone replacement, augmented} (3) Breast cancer, somatic, 114480 (3) {Migraine, susceptibility to}, 157300 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Estrogen resistance, 615363 (3) {Atherosclerosis, susceptibility to} (3)
EYA4	Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3)
EYS	Retinitis pigmentosa 25, 602772 (3)
F13A1	Factor XIIIA deficiency, 613225 (3) {Myocardial infarction, protection against}, 608446 (3) {Venous thrombosis, protection against}, 188050 (3)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FIG4	Amyotrophic lateral sclerosis 11, 612577 (3) Charcot-Marie-Tooth disease, type 4J, 611228 (3) ?Polymicrogyria, bilateral temporooccipital, 612691 (3) Yunis-Varon syndrome, 216340 (3)
GCM2	Hyperparathyroidism 4, 617343 (3) Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
GJA1	Atrioventricular septal defect 3, 600309 (3) Hypoplastic left heart syndrome 1, 241550 (3) Craniometaphyseal dysplasia, autosomal recessive, 218400 (3) Erythrokeratodermia variabilis et progressiva 3, 617525 (3) Oculodentodigital dysplasia, 164200 (3) Oculodentodigital dysplasia, autosomal recessive, 257850 (3) Palmoplantar keratoderma with congenital alopecia, 104100 (3) Syndactyly, type III, 186100 (3)
GTPBP2	Jaberi-Elahi syndrome, 617988 (3)
GUCA1B	Retinitis pigmentosa 48, 613827 (3)
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HFE	Hemochromatosis, 235200 (3) {Microvascular complications of diabetes 7}, 612635 (3) {Porphyria cutanea tarda, susceptibility to}, 176100 (3) {Porphyria variegata, susceptibility to}, 176200 (3) [Transferrin serum level QTL2], 614193 (3) {Alzheimer disease, susceptibility to}, 104300 (3)
HIST1H1E	Rahman syndrome, 617537 (3)
HIVEP2	Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
HMGA1	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IFNGR1	{H. pylori infection, susceptibility to}, 600263 (3) {Hepatitis B virus infection, susceptibility to}, 610424 (3) Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3) {Tuberculosis infection, protection against}, 607948 (3) {Tuberculosis, susceptibility to}, 607948 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IL17F	?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
IRF4	[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
IYD	Thyroid dyshormonogenesis 4, 274800 (3)
KCNQ5	Mental retardation, autosomal dominant 46, 617601 (3)
KHDC3L	Hydatidiform mole, recurrent, 2, 614293 (3)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4	Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5	Leber congenital amaurosis 5, 604537 (3)
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LTA	{Leprosy, susceptibility to, 4}, 610988 (3) {Myocardial infarction, susceptibility to}, 608446 (3) {Psoriatic arthritis, susceptibility to}, 607507 (3)
MAK	Retinitis pigmentosa 62, 614181 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOG	?Narcolepsy 7, 614250 (3)
MSH5	?Premature ovarian failure 13, 617442 (3)
MTO1	Combined oxidative phosphorylation deficiency 10, 614702 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (3)
MYB	{T-cell acute lymphoblastic leukemia} (3)
NCR3	{Malaria, mild, susceptibility to}, 609148 (3)
NDUFAF4	Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NFKBIL1	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2	{?Breast cancer susceptibility}, 114480 (1)
NT5E	Calcification of joints and arteries, 211800 (3)
OR2J3	[C3HEX, ability to smell], 615082 (3)
PDE10A	Dyskinesia, limb and orofacial, infantile-onset, 616921 (3) Striatal degeneration, autosomal dominant, 616922 (3)
PEX3	Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3) ?Peroxisome biogenesis disorder 10B, 617370 (3)
PEX6	Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3)
PHIP	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PLA2G7	Platelet-activating factor acetylhydrolase deficiency, 614278 (3) {Asthma, susceptibility to}, 600807 (3) {Atopy, susceptibility to}, 147050 (3)
PLG	Dysplasminogenemia, 217090 (3) Plasminogen deficiency, type I, 217090 (3)
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POLH	Xeroderma pigmentosum, variant type, 278750 (3)
PRPH2	Choroidal dystrophy, central areolar 2, 613105 (3) Leber congenital amaurosis 18, 608133 (3) Macular dystrophy, patterned, 1, 169150 (3) Macular dystrophy, vitelliform, 3, 608161 (3) Retinitis pigmentosa 7 and digenic form, 608133 (3) Retinitis punctata albescens, 136880 (3)
PSMB8	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
PSMB9	?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)
RARS2	Pontocerebellar hypoplasia, type 6, 611523 (3)
RFX6	Mitchell-Riley syndrome, 615710 (3)
RHAG	Anemia, hemolytic, Rh-null, regulator type, 268150 (3) Overhydrated hereditary stomatocytosis, 185000 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
RMND1	Combined oxidative phosphorylation deficiency 11, 614922 (3)
RNASET2	Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RSPH3	Ciliary dyskinesia, primary, 32, 616481 (3)
RSPH4A	Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9	Ciliary dyskinesia, primary, 12, 612650 (3)
RUNX2	Cleidocranial dysplasia, 119600 (3) Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3) Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3) Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)
SASH1	Dyschromatosis universalis hereditaria 1, 127500 (3) ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63	Polycystic liver disease 2, 617004 (3)
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
SERPINB6	?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L	Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8	Spermatogenic failure 3, 606766 (3)
SLC44A4	?Deafness, autosomal dominant 72, 617606 (3)
SMOC2	Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2	{Microvascular complications of diabetes 6}, 612634 (3)
SUMO4	{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1	Mental retardation, autosomal dominant 5, 612621 (3)
T	{Neural tube defects, susceptibility to}, 182940 (3) Sacral agenesis with vertebral anomalies, 615709 (3)
TAP1	Bare lymphocyte syndrome, type I, 604571 (3)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP	Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TDP2	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TPMT	{Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2	{Psoriasis susceptibility 13}, 614070 (3) ?Candidiasis, familial, 8, 615527 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VARS	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
VARS2	Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1	[High density lipoprotein cholesterol level QTL 8] (3)
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)

Genes at Clinical Genomics Database

AARS2, AHI1, ALDH5A1, ARID1B, ATXN1, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, FIG4, GCM2, GCNT2, GJA1, GUCA1B, HACE1, HFE, HLA-A, HLA-B, HSPA1L, IFNGR1, IL17F, IRF4, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MTO1, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PEX3, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB8, RARS2, RFX6, RHAG, RIMS1, RMND1, RNASET2, RSPH3, RSPH4A, RSPH9, RUNX2, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SMOC2, SOBP, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TBP, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS2, WISP3,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
AHI1	Joubert syndrome 3
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
ATXN1	Spinocerebellar ataxia 1
C4A	Blood group, Chido/Rodgers system
C4B	Complement component 4B deficiency
CD2AP	Focal segmental glomerulosclerosis 3
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CFB	Hemolytic uremic syndrome, atypical Complement factor B deficiency
CLIC5	Deafness, autosomal recessive 103
COL10A1	Metaphyseal chondrodysplasia, Schmid type
COL11A2	Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL9A1	Stickler syndrome, type IV
CUL7	Three M syndrome 1 Yakut short stature syndrome
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2	Deafness, autosomal recessive 66
DSE	Ehlers-Danlos syndrome, musculocontractural type 2
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST	Neuropathy, hereditary sensory and autonomic, type VI
EDN1	Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3
ELOVL4	Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3
ENPP1	Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora)
ERMARD	Periventricular nodular heterotopia 6
ESR1	Estrogen resistance
EYA4	Cardiomyopathy, dilated, 1J
EYS	Retitinis pigmentosa 25
F13A1	Factor XIIIA deficiency
FAM65B	Deafness, autosomal recessive 104
FANCE	Fanconi anemia, complementation group E
FIG4	Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome
GCM2	Hypoparathyroidism, familial isolated
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GJA1	Oculodentodigital dysplasia, autosomal dominant
GUCA1B	Retinitis pigmentosa 48
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures
HFE	Hemochromatosis
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HSPA1L	Abacavir, susceptibility to toxicity with
IFNGR1	Immunodeficiency 27B Immunodeficiency 27A
IL17F	Candidiasis, familial, 6
IRF4	Skin/hair/eye pigmentation, variation in, 8
IYD	Thyroid dyshormonogenesis 4
KHDC3L	Hydatidiform mole, recurrent, 2
LAMA2	Muscular dystrophy, congenital merosin-deficient, 1A Schizophrenia
LAMA4	Cardiomyopathy, dilated, 1JJ
LCA5	Leber congenital amaurosis 5
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type
LPA	Lipoprotein A deficiency, congenital
MAK	Retinitis pigmentosa 62
MCM9	Ovarian dysgenesis 4
MOG	Narcolepsy 7
MTO1	Combined oxidative phosphorylation deficiency 10
MUT	Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4	Mitochondrial complex I deficiency
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)
NT5E	Calcification of joints and arteries
PARK2	Parkinson disease 2, autosomal recessive juvenile
PDE10A	Striatal degeneration, autosomal dominant 2 Infantile-onset dyskinesia
PEX3	Peroxisome biogenesis factor disorder 3 Zellwegger syndrome complementation group G
PEX6	Heimler syndrome 2
PKHD1	Polycystic kidney disease, autosomal recessive
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PLG	Plasminogen deficiency, type I
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
POLH	Xeroderma pigmentosum, variant type
PRPH2	Choriodal dystrophy, central areolar 2 Retinitis punctata albescens Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7
PSMB8	Nakajo-Nishimura syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
RARS2	Pontocerebellar hypoplasia, type 6
RFX6	Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula Martinez-Frias syndrome Mitchell-Riley syndrome
RHAG	Overhydrated hereditary stomatocytosis Anemia, hemolytic, Rh-null, regulator type Anemia, hemolytic,Rh-Mod type RHAG blood group
RIMS1	Cone-rod dystrophy 7
RMND1	Combined oxidative phosphorylation deficiency 11
RNASET2	Leukoencephalopathy, cystic, without megalencephaly
RSPH3	Ciliary dyskinesia, primary, 32
RSPH4A	Ciliary dyskinesia, primary, 11
RSPH9	Ciliary dyskinesia, primary, 12
RUNX2	Cleidocranial dysplasia Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
SEC63	Polycystic liver disease
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6	Deafness, autosomal recessive 91
SKIV2L	Trichohepatoenteric syndrome 2
SLC26A8	Spermatogenic failure 3
SMOC2	Dentin dysplasia, type I
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1	Mental retardation, autosomal dominant 5
T	Chordoma
TAP1	Bare lymphocyte syndrome, type I
TAP2	Bare lymphocyte syndrome, type I
TAPBP	Bare lymphocyte syndrome, type I
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive
TBP	Spinocerebellar ataxia 17
TDP2	Spinocerebellar ataxia, autosomal recessive 23
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT	Thiopurine S-methyltransferase deficiency
TRAF3IP2	Candidiasis, familial 8
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome 46, XY disorder of sex development
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VARS2	Combined oxidative phosphorylation deficiency 20
WISP3	Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood

Genes at HGMD

Summary

Number of Variants: 5124
Number of Genes: 566

Export to: CSV

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AKAP12
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs3823310 dbSNP Clinvar	151674326	916.77	A	C	PASS	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.43890	0.43890	0.44749	0.44	0.00	-0.84	None None	None None None None	AKAP12\|0.001631589\|92.22%
HLA-B
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs41551014 dbSNP Clinvar	31323128	983.89	A	G	PASS	0/1	195	SYNONYMOUS_CODING	LOW	None							None None	None None None None	HLA-B\|0.04113834\|65.4%
AKAP12
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs10872670 dbSNP Clinvar	151669875	431.77	A	G	PASS	0/1	31	NON_SYNONYMOUS_CODING	MODERATE	None	0.68670	0.68670	0.24320	1.00	0.00	-1.32	None None	None None None None	AKAP12\|0.001631589\|92.22%
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs636169 dbSNP Clinvar	158074504	3138.77	A	G	PASS	1/1	86	None	None	None	0.96965	0.96960					None None	None None None None	ZDHHC14\|0.274873956\|29.53%
HLA-B
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs709052 dbSNP Clinvar	31323233	1645.77	A	G	PASS	0/1	139	SYNONYMOUS_CODING	LOW	None	0.47205	0.47200	0.43019				None None	None None None None	HLA-B\|0.04113834\|65.4%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs1050747 dbSNP Clinvar	31323296	4155.77	A	G	PASS	1/1	150	SYNONYMOUS_CODING	LOW	None	0.87720	0.87720	0.16377				None None	None None None None	HLA-B\|0.04113834\|65.4%
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs6930705 dbSNP Clinvar	110757216	511.77	A	G	PASS	0/1	22	None	None	None	0.05511	0.05511	0.06656				None None	None None None None	SLC22A16\|0.007397742\|83.15%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs12525380 dbSNP Clinvar	151358011	506.77	A	T	PASS	0/1	33	None	None	None	0.53095	0.53100					None None	None None None None	MTHFD1L\|0.114197314\|48.45%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs1332027 dbSNP Clinvar	108798498	1138.77	A	G	PASS	0/1	61	None	None	None	0.13698	0.13700	0.07720				None None	None None None None	LACE1\|0.473816864\|17.02%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs1771796 dbSNP Clinvar	151281707	811.77	A	G	PASS	0/1	45	None	None	None	0.94489	0.94490					None None	None None None None	MTHFD1L\|0.114197314\|48.45%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs1150800 dbSNP Clinvar	43494319	2199.77	A	G	PASS	1/1	56	None	None	None	1.00000	1.00000					None None	None None None None	POLR1C\|0.567751923\|13.09%,XPO5\|0.482773789\|16.61%
HLA-B
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs2596493 dbSNP Clinvar	31323945	1549.77	A	C	PASS	1/1	51	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.87380	0.87380					None None	None None None None	HLA-B\|0.04113834\|65.4%
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs5030964 dbSNP Clinvar	27216488	480.77	A	G	PASS	0/1	35	None	None	None	0.06530	0.06530					None None	None None None None	PRSS16\|0.01564206\|76.67%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs2294974 dbSNP Clinvar	41655942	216.77	A	G	PASS	0/1	12	None	None	None	0.20108	0.20110					None None	None None None None	TFEB\|0.512140723\|15.29%
	View	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs9386812 dbSNP Clinvar	109863238	1133.77	A	C	PASS	1/1	32	None	None	None	0.65236	0.65240	0.45308				None None	None None None None	AK9\|0.032678932\|68.3%
HLA-C
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	62388010_s7 mvar 62388010_S7.FREEBAYES	6	rs1050366 dbSNP Clinvar	31238957	4066.77	A	C	PASS	1/1	108	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00	-1.94	None None	None None None None	HLA-C\|0.028815016\|70%