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+ Genes 816

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP3D1, APBA3, APC2, APOE, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATF5, ATP13A1, ATP1A3, ATP4A, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BAX, BCAM, BCAT2, BCKDHA, BIRC8, BRSK1, BSG, C19orf10, C19orf12, C19orf24, C19orf26, C19orf45, C19orf54, C19orf55, C19orf57, C19orf59, C19orf68, C19orf71, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACNG6, CACTIN, CALR, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC159, CCDC61, CCL25, CD177, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEP89, CERS1, CERS4, CHAF1A, CHERP, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, CNTD2, COL5A3, COLGALT1, COPE, CPAMD8, CPT1C, CRB3, CRLF1, CRTC1, CSNK1G2, CTC-360G5.8, CTD-2368P22.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAPK3, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNASE2, DNMT1, DOCK6, DOT1L, DPY19L3, EBI3, ECH1, EEF2, EGLN2, EHD2, EID2, EID2B, EIF3G, ELAVL1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERF, ERVV-2, ETFB, ETHE1, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FBN3, FBXO17, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR3, FGF22, FIZ1, FLT3LG, FOSB, FOXA3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, FXYD7, GADD45B, GALP, GATAD2A, GCDH, GDF1, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAPLN4, HAS1, HAUS5, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IFNL3, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF2BP1, IRF3, IRGQ, ITPKC, JAK3, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLC3, KLF1, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK7, KLK8, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LDLR, LENG1, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LPHN1, LPPR3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MEGF8, MFSD12, MIDN, MIER2, MISP, MPND, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NCLN, NDUFA11, NDUFA3, NDUFA7, NDUFS7, NFIC, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NPAS1, NR1H2, NR2F6, NTF4, NTN5, NUCB1, NUDT19, NUP62, NWD1, NXNL1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A17, OR7C1, OR7C2, OR7E24, OR7G2, OR7G3, OSCAR, OVOL3, PAK4, PALM, PALM3, PAPL, PCP2, PDCD2L, PDE4C, PEG3, PEX11G, PGLS, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNMAL2, PNPLA6, POLD1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPM1N, PPP1R15A, PPP1R37, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL28, RPS16, RPS5, RRAS, RSPH6A, RTBDN, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAMD1, SBK2, SBK3, SBNO2, SBSN, SCAF1, SDHAF1, SELV, SERTAD1, SERTAD3, SH3GL1, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC39A3, SLC44A2, SLC6A16, SLC7A9, SLC8A2, SMARCA4, SNAPC2, SNRPA, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TGFB1, THAP8, THEG, THOP1, TICAM1, TIMM44, TIMM50, TJP3, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNI3, TNNT1, TOMM40, TPGS1, TPRX1, TPRX2P, TRAPPC5, TRIM28, TRPM4, TSEN34, TSHZ3, TSKS, TSSK6, TUBB4A, TYROBP, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPF1, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VN1R2, VN1R4, VSIG10L, WDR18, WDR62, WDR87, WDR88, WTIP, XAB2, XRCC1, YIPF2, ZBTB32, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF134, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF429, ZNF432, ZNF433, ZNF439, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF460, ZNF470, ZNF471, ZNF480, ZNF486, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF564, ZNF565, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF577, ZNF578, ZNF579, ZNF580, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF765, ZNF77, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF8, ZNF808, ZNF813, ZNF83, ZNF837, ZNF845, ZNF85, ZNF850, ZNF865, ZNF880, ZNF91, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B, ZSCAN5C, ZSCAN5D, ZSWIM4, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 131

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADAT3, AMH, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BAX, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CCDC151, CERS1, CIC, CLEC4M, COLGALT1, CPAMD8, CPT1C, CRLF1, CRTC1, CYP2A6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ERF, ETFB, ETHE1, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GDF1, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, ICAM1, IFNL3, IL12RB1, INSL3, INSR, IRF3, ITPKC, JAK3, KANK2, KCNC3, KIR3DL1, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RAB11B, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BAX Colorectal cancer, somatic, 114500 (3)
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CRLF1 Cold-induced sweating syndrome 1, 272430 (3)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ERF Chitayat syndrome, 617180 (3)
Craniosynostosis 4, 600775 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
ITPKC {Kawasaki disease, susceptibility to}, 611775 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RFXANK MHC class II deficiency, complementation group B, 209920 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TNNI3 Cardiomyopathy, dilated, 1FF, 613286 (3)
Cardiomyopathy, familial restrictive, 1, 115210 (3)
Cardiomyopathy, hypertrophic, 7, 613690 (3)
?Cardiomyopathy, dilated, 2A, 611880 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, APOE, ATP1A3, AURKC, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CERS1, CPT1C, CRLF1, CYP2A6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ERF, ETFB, ETHE1, FTL, FUT3, FUT6, FUZ, GCDH, GDF1, GNA11, GP6, GPX4, GTPBP3, IFNL3, IL12RB1, INSL3, INSR, IRF3, JAK3, KANK2, KCNC3, KLF1, KLK4, KPTN, LDLR, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CERS1 Epilepsy, progressive myoclonic 8
CPT1C Spastic paraplegia 73, autosomal dominant
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ERF Craniosynostosis 4
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
ETHE1 Ethylmalonic encephalopathy
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GCDH Glutaric aciduria, type I
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IFNL3 Drug metabolism, IL28B-related
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LIPE Abdominal obesity-metabolic syndrome 4
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RFXANK MHC class II deficiency
RGS9BP Bradyopsia
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNNI3 Cardiomyopathy, familial hypertrophic 7
Cardiomyopathy, dilated 1FF
Cardiomyopathy, dilated, 2A
Cardiomyopathy, familial restrictive
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 8628
Number of Genes: 816

Export to: CSV

PPAP2C
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 94533-0209701724_ms_onbait 19 rs1138439
dbSNP Clinvar 		282753 1776352.39 G A PASS 0/1 88 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36462 0.36460 0.44387 0.31 0.03 None None None None None None PPAP2C|0.013849586|77.98%
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 94533-0209701724_ms_onbait 19 . 6890432 43269.37 GTTT GT... PASS 1/1 0 None None None None None None None None None ADGRE1|0.00211453|90.69%
View 94533-0209701724_ms_onbait 19 rs796272167
dbSNP Clinvar 		4510387 2251.62 AAC A PASS 0/1 18 None None None None None None None None None PLIN4|0.000829699|96.5%
View 94533-0209701724_ms_onbait 19 rs1003550417
dbSNP Clinvar 		1418938 993.02 GA G PASS 0/1 9 None None None None None None None None None DAZAP1|0.105859696|50.04%
View 94533-0209701724_ms_onbait 19 . 1454985 17779.4 ACC AC PASS 1/1 3 None None None None None None None None None APC2|0.091060491|53.03%
View 94533-0209701724_ms_onbait 19 . 1457894 277295.22 C CG... PASS 0/1 10 None None None None None None None None None APC2|0.091060491|53.03%
View 94533-0209701724_ms_onbait 19 . 1461922 167.83 A G PASS 0/1 17 None None None None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View 94533-0209701724_ms_onbait 19 . 1528149 1224193.39 CG... CG... PASS 0/1 5 None None None 0.00339 None None None None None None PLK5|0.003429971|87.9%
View 94533-0209701724_ms_onbait 19 . 1528231 3016950.13 TC... CC... PASS 0/1 30 None None None None None None None None None PLK5|0.003429971|87.9%

TCF3
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 94533-0209701724_ms_onbait 19 rs1052692
dbSNP Clinvar 		1619350 145072.93 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.11262 0.11260 0.05787 0.86 0.07 None None None None None None TCF3|0.245655787|31.96%
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 94533-0209701724_ms_onbait 19 rs894403311
dbSNP Clinvar 		2114066 1592.69 G A PASS 0/1 104 None None None None None None None None None AP3D1|0.055098943|61.17%

PLIN4
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 94533-0209701724_ms_onbait 19 . 4511350 11780876.94 TT... AT... PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None None None None None None None PLIN4|0.000829699|96.5%
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 94533-0209701724_ms_onbait 19 rs1160969,rs386388464,rs397934652
dbSNP Clinvar 		6935121 5059816.2 T TAA PASS 1/1 86 None None None None None None None None None ADGRE1|0.00211453|90.69%
View 94533-0209701724_ms_onbait 19 rs35728086
dbSNP Clinvar 		3963446 84976.01 TG T PASS 0/1 9 None None None None None None None None None DAPK3|0.14116119|44.24%
View 94533-0209701724_ms_onbait 19 rs12972391
dbSNP Clinvar 		6990702 1038357.0 A G PASS 0/1 36 None None None 0.46506 0.46510 0.43036 None None None None None None None
View 94533-0209701724_ms_onbait 19 . 44268502 7393.62 CA... CA... PASS 0/1 5 None None None None None None None None None None
View 94533-0209701724_ms_onbait 19 rs782675873
dbSNP Clinvar 		42213456 132521.76 GACAC G,GAC PASS 1/2 14 None None None None None None None None None CEACAM5|0.000745649|97.03%

CEACAM5
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 94533-0209701724_ms_onbait 19 rs7249230
dbSNP Clinvar 		42221607 4104787.78 A G PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.89717 0.89720 0.13755 0.16 0.00 None None None None None None CEACAM5|0.000745649|97.03%
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 94533-0209701724_ms_onbait 19 . 42792901 2799.93 GT GTT PASS 0/1 10 None None None None None None None None None CIC|0.189017776|37.93%

MEGF8
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 94533-0209701724_ms_onbait 19 rs28483598
dbSNP Clinvar 		42874900 40967.16 C T PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.01715 None None None None None None MEGF8|0.093938097|52.38%
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 94533-0209701724_ms_onbait 19 . 7705300 640111.84 ATG ATGTG PASS 1/1 5 None None None 0.06629 None None None None None None STXBP2|0.060993304|59.59%
View 94533-0209701724_ms_onbait 19 . 42874995 53962.12 CG... TG... PASS 0/1 11 None None None None None None None None None MEGF8|0.093938097|52.38%
View 94533-0209701724_ms_onbait 19 rs76937271
dbSNP Clinvar 		7705383 121374.92 CA... C PASS 0/1 13 None None None None None None None None None STXBP2|0.060993304|59.59%
View 94533-0209701724_ms_onbait 19 . 44471632 568250.26 CTTT CT... PASS 1/2 10 None None None None None None None None None ZNF221|0.001110241|94.9%

ZNF155
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 94533-0209701724_ms_onbait 19 rs448921
dbSNP Clinvar 		44500761 11031894.07 G A PASS 1/1 310 NON_SYNONYMOUS_CODING MODERATE None 0.89736 0.89740 0.10526 0.55 0.00 None None None None None None ZNF155|0.000733517|97.12%
View 94533-0209701724_ms_onbait 19 rs388812
dbSNP Clinvar 		44501116 12795763.49 A G PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.90655 0.90650 0.09903 None None None None None None ZNF155|0.000733517|97.12%
View 94533-0209701724_ms_onbait 19 rs388471
dbSNP Clinvar 		44501227 10720148.62 A G PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.10349 None None None None None None ZNF155|0.000733517|97.12%
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 94533-0209701724_ms_onbait 19 rs758765577
dbSNP Clinvar 		7705403 29177.91 TG... T PASS 0/1 15 None None None None None None None None None STXBP2|0.060993304|59.59%

ZNF224
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 94533-0209701724_ms_onbait 19 rs4239529
dbSNP Clinvar 		44610798 8511820.62 A T PASS 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.80092 0.80090 0.12333 0.38 0.00 None None None None None None ZNF224|0.001614769|92.27%
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 94533-0209701724_ms_onbait 19 rs780496653
dbSNP Clinvar 		35978707 1435.52 G A PASS 0/1 88 None None None None None None None None None KRTDAP|0.020366228|73.99%

DMKN
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 94533-0209701724_ms_onbait 19 rs909072
dbSNP Clinvar 		35991442 3038838.77 T G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00584 1.00 0.00 None None None None None None DMKN|0.003521347|87.74%
View 94533-0209701724_ms_onbait 19 rs4806163
dbSNP Clinvar 		36004106 7892903.55 A G PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.85963 0.85960 0.16569 1.00 0.00 None None None None None None DMKN|0.003521347|87.74%

ZNF564
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 94533-0209701724_ms_onbait 19 rs2861411
dbSNP Clinvar 		12661335 49077.81 C T PASS 1/1 2 None None None 0.48542 0.48540 None None None None None None ZNF564|0.000930238|95.9%
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 94533-0209701724_ms_onbait 19 . 12721827 809.51 T C PASS 0/1 104 None None None None None None None None None ZNF490|0.001617181|92.25%,ZNF791|0.002370284|89.97%

MAN2B1
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 94533-0209701724_ms_onbait 19 rs1054486
dbSNP Clinvar 		12774208 1681492.0 G C PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.23942 0.23940 0.31855 0.51 0.00 None None None None None None MAN2B1|0.016002669|76.46%

GCDH
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 94533-0209701724_ms_onbait 19 rs121434372
dbSNP Clinvar 		13008632 1210.51 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 0.98 None None None None None None GCDH|0.056805161|60.73%
View 94533-0209701724_ms_onbait 19 rs8012
dbSNP Clinvar 		13010520 1569359.19 A G PASS 0/1 56 None None None 0.72045 0.72040 0.36111 0.00 0.00 None None None None None None GCDH|0.056805161|60.73%,SYCE2|0.002656556|89.35%
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 94533-0209701724_ms_onbait 19 . 13323641 246852.9 TACAC TA... PASS 0/1 6 None None None None None None None None None CACNA1A|0.210424701|35.52%
View 94533-0209701724_ms_onbait 19 rs2056821
dbSNP Clinvar 		15739315 8924580.38 T C PASS 1/1 153 None None None 0.71246 0.71250 0.26113 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs899329468
dbSNP Clinvar 		42875025 11851.34 A G PASS 0/1 23 None None None None None None None None None MEGF8|0.093938097|52.38%

LIPE
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 94533-0209701724_ms_onbait 19 rs16975750
dbSNP Clinvar 		42931004 203955.61 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.07847 0.07847 0.07804 0.21 0.00 None None None None None None LIPE|0.218109682|34.59%
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 94533-0209701724_ms_onbait 19 rs113910760
dbSNP Clinvar 		44284759 62692.94 C T PASS 0/1 3 None None None None None None None None None KCNN4|0.049804966|62.73%

LYPD5
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 94533-0209701724_ms_onbait 19 rs349053
dbSNP Clinvar 		44302624 3046544.81 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.44529 0.44530 0.48901 0.07 0.07 None None None None None None LYPD5|0.003135809|88.41%
View 94533-0209701724_ms_onbait 19 rs11547806
dbSNP Clinvar 		44303066 1296314.5 C G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.62141 0.62140 0.41183 0.24 0.00 None None None None None None LYPD5|0.003135809|88.41%

ZNF45
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 94533-0209701724_ms_onbait 19 rs388706
dbSNP Clinvar 		44418693 4049573.74 T C PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.52536 0.52540 0.45587 0.06 0.00 None None None None None None ZNF45|0.006171601|84.42%
View 94533-0209701724_ms_onbait 19 rs399098
dbSNP Clinvar 		44418824 3513643.78 C T PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.41434 0.41430 0.40750 1.00 0.00 None None None None None None ZNF45|0.006171601|84.42%
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 94533-0209701724_ms_onbait 19 rs3833257,rs397957339
dbSNP Clinvar 		37488677 184683.98 G GA PASS 0/1 28 None None None None None None None None None ZNF568|0.003037748|88.58%

ZNF527
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs4452075
dbSNP Clinvar 		37879589 1111587.66 A G PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.34565 0.34560 0.26255 0.12 0.01 None None None None None None ZNF527|0.017040779|75.83%
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 94533-0209701724_ms_onbait 19 . 37958973 96074.43 GTT GT PASS 0/1 37 None None None None None None None None None ZNF569|0.025541534|71.54%,ZNF570|0.037641797|66.58%

ZNF571
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs4802029
dbSNP Clinvar 		38055612 958680.11 A T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.36821 0.36820 0.22951 0.00 1.00 None None None None None None ZNF540|0.001480958|92.85%,ZNF571|0.001467646|92.94%
View 94533-0209701724_ms_onbait 19 rs28512414
dbSNP Clinvar 		38056574 691122.13 T A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.36821 0.36820 0.22946 0.05 0.03 None None None None None None ZNF540|0.001480958|92.85%,ZNF571|0.001467646|92.94%

ZNF607
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 94533-0209701724_ms_onbait 19 rs12461753
dbSNP Clinvar 		38202515 596216.62 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.14756 0.14760 0.00285 0.08 0.00 None None None None None None ZNF607|0.002324929|90.11%
View 94533-0209701724_ms_onbait 19 rs2909097
dbSNP Clinvar 		38202516 4096517.06 A C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00023 1.00 0.00 None None None None None None ZNF607|0.002324929|90.11%
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 94533-0209701724_ms_onbait 19 rs111759996
dbSNP Clinvar 		55658692 14468.9 G C PASS 0/1 12 None None None None None None None None None TNNT1|0.135858719|44.99%
View 94533-0209701724_ms_onbait 19 rs75884999
dbSNP Clinvar 		55658697 27060.34 A G PASS 0/1 12 None None None None None None None None None TNNT1|0.135858719|44.99%
View 94533-0209701724_ms_onbait 19 rs3729836
dbSNP Clinvar 		55668509 700835.59 A T PASS 0/1 14 None None None 0.45807 0.45810 0.31615 None None None None None None TNNI3|0.164781833|40.95%
View 94533-0209701724_ms_onbait 19 rs10664406
dbSNP Clinvar 		19653525 1201086.21 A AAG PASS 0/1 30 None None None None None None None None None CILP2|0.025108025|71.74%
View 94533-0209701724_ms_onbait 19 rs776965948
dbSNP Clinvar 		55671134 507496.01 GA... G PASS 0/1 27 None None None None None None None None None DNAAF3|0.005278927|85.46%

DNAAF3
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 94533-0209701724_ms_onbait 19 rs890872
dbSNP Clinvar 		55671337 3545539.52 C T PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.69 0.00 None None None None None None DNAAF3|0.005278927|85.46%

PSG4
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 94533-0209701724_ms_onbait 19 rs67183694
dbSNP Clinvar 		43708978 573172.14 TC T PASS 0/1 115 None None None 0.73263 0.73260 None None None None None None PSG4|0.000588489|97.99%
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 94533-0209701724_ms_onbait 19 . 43919911 9659.6 CAA CA PASS 0/1 4 None None None None None None None None None TEX101|0.000777135|96.81%
View 94533-0209701724_ms_onbait 19 rs304727
dbSNP Clinvar 		44098835 90386.92 A T PASS 0/1 4 None None None None None None None None None IRGQ|0.009946279|80.88%
View 94533-0209701724_ms_onbait 19 rs2301761
dbSNP Clinvar 		1254122 566537.56 G A PASS 0/1 4 None None None 0.38259 0.38260 0.34363 None None None None None None MIDN|0.022282915|73.04%
View 94533-0209701724_ms_onbait 19 rs139146051
dbSNP Clinvar 		1349137 23024.21 C T PASS 0/1 38 None None None 0.00260 0.00260 0.00733 None None None None None None MUM1|0.00138952|93.41%
View 94533-0209701724_ms_onbait 19 rs10504
dbSNP Clinvar 		281383 34602.53 C T PASS 0/1 7 None None None 0.01258 0.01258 0.03498 None None None None None None PPAP2C|0.013849586|77.98%
View 94533-0209701724_ms_onbait 19 rs71507453
dbSNP Clinvar 		107329 41204.38 A G PASS 0/1 18 None None None None None None None None None None
View 94533-0209701724_ms_onbait 19 rs796905787
dbSNP Clinvar 		107381 61431.23 T C PASS 0/1 34 None None None None None None None None None None
View 94533-0209701724_ms_onbait 19 rs370002930
dbSNP Clinvar 		287970 977660.83 G GT PASS 0/1 9 None None None 0.10483 0.10480 0.31152 None None None None None None PPAP2C|0.013849586|77.98%
View 94533-0209701724_ms_onbait 19 rs35895757,rs397829823
dbSNP Clinvar 		288329 25002.06 T TC PASS 1/1 3 None None None 0.37520 0.37520 None None None None None None PPAP2C|0.013849586|77.98%
View 94533-0209701724_ms_onbait 19 rs72982402
dbSNP Clinvar 		307037 32577.0 C T PASS 0/1 12 None None None 0.11502 0.11500 None None None None None None MIER2|0.013191734|78.36%

MIER2
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 94533-0209701724_ms_onbait 19 rs747849333
dbSNP Clinvar 		308633 448.56 G C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.56 None None None None None None MIER2|0.013191734|78.36%
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 94533-0209701724_ms_onbait 19 rs72984427
dbSNP Clinvar 		311708 321155.43 A G PASS 0/1 16 None None None 0.12859 0.12860 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs111820777
dbSNP Clinvar 		311787 463388.22 C G PASS 0/1 38 None None None 0.08926 0.08926 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs147239603
dbSNP Clinvar 		312107 38047.79 G A PASS 0/1 35 None None None None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 . 312122 78628.07 GC... G PASS 0/1 76 None None None None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs10416918
dbSNP Clinvar 		312143 1802015.73 T C PASS 0/1 43 None None None 0.99301 0.99300 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs60199290
dbSNP Clinvar 		312311 358874.32 G C PASS 0/1 48 None None None 0.00040 0.00040 0.18397 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs58749922
dbSNP Clinvar 		312313 225119.87 A G PASS 0/1 49 None None None 0.09125 0.09125 0.06053 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs73916894
dbSNP Clinvar 		325514 184697.62 A G PASS 0/1 14 None None None 0.13039 0.13040 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs58761889
dbSNP Clinvar 		325865 37785.19 A G PASS 0/1 20 None None None 0.13638 0.13640 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs2303811
dbSNP Clinvar 		372737 359380.66 T C PASS 1/1 45 None None None 0.14876 0.14880 0.13617 None None None None None None THEG|0.00441963|86.47%

MIER2
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 94533-0209701724_ms_onbait 19 rs7256086
dbSNP Clinvar 		327182 114738.49 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.13618 0.13620 0.14824 None None None None None None MIER2|0.013191734|78.36%
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 94533-0209701724_ms_onbait 19 rs7250846
dbSNP Clinvar 		327323 154277.06 T C PASS 0/1 9 None None None 0.13978 0.13980 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs7257040
dbSNP Clinvar 		327821 139865.98 C A PASS 0/1 14 None None None 0.00060 0.10320 0.13863 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs57488274
dbSNP Clinvar 		328028 197778.3 C T PASS 0/1 25 None None None 0.10084 0.10080 0.13701 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs12972174
dbSNP Clinvar 		548865 358175.26 C T PASS 1/1 3 None None None None None None None None None GZMM|0.003452935|87.85%

MIER2
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 94533-0209701724_ms_onbait 19 rs11084956
dbSNP Clinvar 		334474 479136.75 T G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.18790 0.18790 0.19576 None None None None None None MIER2|0.013191734|78.36%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs3816322
dbSNP Clinvar 		335946 574105.21 G A PASS 0/1 17 None None None 0.51258 0.51260 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs11879189
dbSNP Clinvar 		336279 18699.63 T G PASS 0/1 9 None None None 0.18770 0.18770 None None None None None None MIER2|0.013191734|78.36%
View 94533-0209701724_ms_onbait 19 rs11880770
dbSNP Clinvar 		336350 8924.0 G A PASS 0/1 3 None None None 0.18650 0.18650 None None None None None None MIER2|0.013191734|78.36%

THEG
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 94533-0209701724_ms_onbait 19 rs10422863
dbSNP Clinvar 		367089 143682.39 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.06510 0.06510 0.04859 1.00 0.00 None None None None None None THEG|0.00441963|86.47%
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs585487
dbSNP Clinvar 		367313 334460.39 G A PASS 1/1 37 None None None 0.51997 0.52000 None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs754959786
dbSNP Clinvar 		371369 671017.75 GGTGT GGT,G PASS 1/2 17 None None None None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs644644
dbSNP Clinvar 		371396 2271273.48 G C PASS 1/1 18 None None None 0.00699 0.83010 None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs652081
dbSNP Clinvar 		372551 2875008.06 A G PASS 1/1 31 None None None 0.93950 0.93950 None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs2074460
dbSNP Clinvar 		647039 3327492.81 T C PASS 1/1 17 None None None 0.89517 0.89520 0.13403 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs2303812
dbSNP Clinvar 		372775 249347.2 G A PASS 1/1 21 None None None 0.14577 0.14580 None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs671915
dbSNP Clinvar 		372867 257899.62 T C PASS 1/1 4 None None None 0.94409 0.94410 None None None None None None THEG|0.00441963|86.47%
View 94533-0209701724_ms_onbait 19 rs117842907
dbSNP Clinvar 		373404 1752.54 C T PASS 0/1 10 None None None 0.00140 0.00140 None None None None None None THEG|0.00441963|86.47%

THEG
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 94533-0209701724_ms_onbait 19 rs3815960
dbSNP Clinvar 		374453 1100190.47 T C PASS 0/1 30 None None None 0.39956 0.39960 0.30411 0.11 0.00 None None None None None None THEG|0.00441963|86.47%