Annotation Detail
Information
- Associated Genes
- ACAT1 ACP2 ACRV1 ACTN3 ADM GRK2 AP2A2 APLNR ALDH3B1 ALDH3B2 AMPD3 APBB1 BIRC2 BIRC3 APLP2 APOA1 APOA4 APOC3 ARCN1 RHOG ARHGAP1 PHOX2A ARL2 BMAL1 ARRB1 ART1 ASCL2 ATM FXYD2 BAD BBS1 CCND1 BDNF CXCR5 SERPING1 CAPN5 VPS51 MRPL49 ZNHIT2 MPPED2 MYRF TMEM258 DAGLA CALCA CALCB CAPN1 CARS1 CASP1 CASP4 CASP5 CAT CBL SERPINH1 CCKBR CD3D CD3E CD3G CD5 CD6 MS4A1 MS4A3 CD44 CD59 CD81 CD151 CDKN1C CFL1 CTSC CHEK1 CHKA CHRM1 CHRM4 TPP1 CLNS1A CNGA4 CNTF COPB1 COX8A CPT1A CRY2 CRYAB CST6 CSTF3 CTNND1 CTSD CTSW DDB1 DDB2 DDX6 DDX10 DHCR7 DLAT DLG2 DPAGT1 DRD2 DRD4 DUSP8 EEF1G EIF4G2 ELF5 MARK2 CTTN ESRRA ETS1 EXT2 F2 FANCF FAU MS4A2 FDX1 FEN1 FGF3 FGF4 FKBP2 FLI1 FOLH1 FOLR1 FOLR2 FOLR3 FSHB FTH1 FUT4 SLC37A4 LRRC32 GAS2 CBLIF GNG3 GRIA4 GRIK4 GRM5 GSTP1 GTF2H1 GUCY1A2 H2AX HBB HBD HBE1 HBG1 HBG2 HMBS SLC29A2 HPX HRAS HSPA8 HSPB2 DNAJC4 HTR3A IGF2 IGHMBP2 IL10RA IL18 ILK INCENP INS INPPL1 IRF7 STT3A CD82 KCNA4 KCNC1 KCNJ1 KCNJ5 KCNJ11 KCNQ1 KRTAP5-9 LDHA LDHC FADS1 FADS3 LMO1 LMO2 VWA5A LRP4 LRP5 LSP1 LTBP3 CAPRIN1 MAP6 MCAM MDK MEN1 SCGB2A1 SCGB2A2 MAP3K11 KMT2A MMP1 MMP3 MMP7 MMP8 MMP10 MMP12 MMP13 MRE11 MTNR1B MUC2 MUC5AC MUC6 MYBPC3 MYO7A MYOD1 NAP1L4 NCAM1 NDUFC2 NDUFS3 NDUFV1 NDUFS8 NELL1 NFRKB NNMT NPAT NRGN NUCB2 NUMA1 NUP98 OMP OPCML SLC22A18 SLC22A18AS OSBP OVOL1 P2RX3 P2RY2 P2RY6 PAFAH1B2 PAK1 PAX6 PC PDE2A PDE3B PGA5 PGR PIK3C2A PLCB3 POLR2G POLR2L POU2AF1 PPP1CA PPP2R1B PPP2R5B PRCP PRG2 THAP12 PSMA1 PSMC3 PSMD13 PTH PTPRCAP PTPRJ PTS NECTIN1 PYGM RAB3IL1 RAB6A MAP4K2 RAD9A RAG1 RAG2 RAPSN PLAAT4 RBM4 RCN1 RDX RELA DPF2 RNH1 SNORD15A ROM1 MRPL23 RPL27A RPLP2 RPS3 RPS6KB2 RPS13 RPS25 RRM1 SAA1 SAA2 SAA4 SC5D SCN2B SCN4B SCT SDHD ST3GAL4 SIPA1 SLC1A2 SLC3A2 SLN SMPD1 SORL1 SPI1 SPTBN2 SRPRA TRIM21 SSRP1 DENND2B ST14 STIM1 STX3 STX5 ABCC8 TAGLN TAF10 TALDO1 TCN1 TEAD1 TECTA TH THRSP THY1 TSPAN4 TM7SF2 TNNI2 TNNT3 TPH1 TRAF6 TRPC6 TSG101 PHLDA2 TUB TYR UCP2 UCP3 SCGB1A1 UPK2 UVRAG VEGFB BEST1 WEE1 WNT11 WT1 SF1 ZFPL1 ZNF143 ZBTB16 ZNF195 ZNF202 ZNF214 ZNF215 RASSF7 CSRP3 PDHX FOSL1 CUL5 PICALM FZD4 BBOX1 PPFIBP2 PPFIA1 SLC43A1 IFITM1 DGKZ CHST1 BARX2 API5 MADD OR6A2 DCHS1 EIF3F JRKL CTSF EED FADD BANF1 ZPR1 MTMR2 RPS6KA4 BRSK2 AIP SYT7 SART1 USP2 SLC6A5 FIBP PCSK7 HTR3B ZW10 MTA2 UBE2L6 SNORD29 SNORD31 SNORD30 SNORD28 SNORD27 SNORD26 SNORD25 SNORD22 MMP20 UBE4A SLC22A6 SLC22A8 NRXN2 LPXN PEX16 FADS2 MED17 MAPK8IP1 TP53I11 EI24 PITPNM1 RIN1 TESMIN FEZ1 MICAL2 CTR9 CEP57 ARHGAP32 ATG13 SPCS2 CKAP5 ARHGEF17 GAB2 C2CD2L TRIM66 FCHSD2 FGF19 CCS RCE1 NAALAD2 NAALADL1 KCNE3 NR1H3 IL18BP DPP3 TSPAN32 TSSC4 USH1C KCNK7 HIPK3 RBM7 PRMT3 MPZL2 RASGRP2 GLYAT CDK2AP2 TCIRG1 RTN3 IRAG1 TRIM22 PRG3 IFITM3 YAP1 SPON1 RBM14 CDC42EP2 EIF3M NXF1 DEAF1 KAT5 HYOU1 IPO7 ZNRD2 HTATIP2 IFITM2 DRAP1 TRIM3 TAF6L ATP5MG SCGB1D2 SCGB1D1 CELF1 POLD3 OR5I1 STARD10 NEU3 ME3 GPR83 LYVE1 YIF1A SRSF8 EHD1 C11orf58 STIP1 CLP1 KCNQ1OT1 SF3B2 CCDC85B B4GAT1 ADAMTS8 PRSS23 PLAAT3 TREH PKP3 HPS5 PTGDR2 SLCO2B1 RRAS2 CEP164 ZP1 SHANK2 KDM2A IGSF9B ENDOD1 SWAP70 EXPH5 ATG2A PHLDB1 GANAB FAM168A DTX4 SIK2 DENND5A NUP160 NCAPD3 FNBP4 ARHGEF12 RRP8 SIK3 SIRT3 CLCF1 OR52A1 VSIG2 BACE1 FAM89B SNHG1 ARFIP2 POLA2 TRIM29 RAB38 CADM1 FLRT1 MTCH2 PANX1 FJX1 KIAA1549L PRDX5 POU2F3 ABTB2 BRMS1 CATSPERZ CHRDL2 PAMR1 ANAPC15 ZDHHC5 ATL3 TSKU HINFP REXO2 C2CD3 TKFC TENM4 B3GAT3 FBXO3 SERGEF EHF OR5L2 PPP1R14B OR8B8 OR8G1 OR10A3 TIMM10B TIMM10 TIMM8B MYEOV BSCL2 OR8B2 ELP4 CHORDC1 ACAD8 B3GAT1 DKK3 RBMXL2 RAB30 PGAP2 PRPF19 DCPS C11orf54 AAMDC MACROD1 SLC43A3 ZBTB44 THYN1 COMMD9 DDX25 C11orf21 PACSIN3 TRPM5 SAC3D1 SNX15 RHOD EFEMP2 NOX4 UBQLN3 KCNK4 RNF141 NTM CDON UBXN1 APIP TMX2 GAL SIDT2 KMT5B HSD17B12 IGF2-AS TMEM216 CEND1 COA4 SLC15A3 PHF21A MS4A4A WT1-AS TRAPPC4 PPME1 CABP2 HIKESHI CWC15 TRMT112 TMEM138 PCF11 MRPL48 CYB5R2 RSF1 SPA17 FXYD6 C11orf24 TRIM34 CDHR5 CNTN5 SIAE TOLLIP C11orf71 ZDHHC13 ROBO4 WDR74 SLC35F2 RAB39A TRIM44 BTG4 NXPE4 SYTL2 ANKRD49 MS4A12 MRPL16 SDHAF2 SSH3 TTC12 TMEM132A PLAAT2 LAMTOR1 USP47 VPS37C ANO1 TRIM68 NADSYN1 FAM86C1P NKAPD1 NAT10 CCDC87 PPP6R3 UEVLD RNF121 LIN7C ACER3 SLC35C1 TCP11L1 LGR4 PIDD1 ELMOD1 KCNQ1DN SOX6 CDC42BPG FOXRED1 OTUB1 AMBRA1 PACS1 KDM4D KBTBD4 PARVA TTC17 SCN3B VPS11 TMEM126B SLC22A11 TEX12 CRTAM MMP26 TMPRSS4 AKIP1 C11orf16 TMEM9B NRIP3 ASCL3 GPR137 IFT46 SMCO4 EMSY PRDM10 PRDM11 CABP4 CHRNA10 SLC17A6 TRIM49 PNPLA2 CD248 CORO1B SCYL1 DSCAML1 GRAMD1B USP35 CEP126 ARHGAP20 CARNS1 SYT13 USP28 PHRF1 LRRC4C SCUBE2 POLD4 KRTAP5-8 PLEKHB1 MS4A7 ZBED5 CREBZF CARD18 SIGIRR CCDC90B CCDC81 AASDHPPT ALX4 MRPL17 PKNOX2 FAM111A TP53AIP1 ANO3 MMP27 ABCG4 ROBO3 MS4A6A MS4A5 CFAP68 EPS8L2 KLC2 TUT1 MRPL11 TMEM135 STK33 KCTD14 ZFTA CHID1 LRFN4 AHNAK ALG8 PRRG4 TMEM223 TMEM109 CCDC86 LBHD1 CSTPP1 TRIM48 TAF1D RNF26 OR51G1 OR51B4 OR51B2 OR52N1 FAM118B RIC3 DYNC2H1 NLRX1 MSANTD2 TOP6BL NARS2 E2F8 SLC25A22 CCDC82 ALG9 ZNF408 CLMP NAA40 QSER1 AGBL2 ZBTB3 NHERF4 JHY CPSF7 PRR5L CCDC15 ASRGL1 PGGHG MOGAT2 TMEM134 MUS81 PAAF1 PDGFD INTS5 ZFP91 TMPRSS5 OR8J3 OR51G2 OR51E2 OR4P4 OR4C15 OR4A5 OR4A16 OR4A15 OR10W1 PTDSS2 MOB2 GDPD5 CLPB UNC93B1 SBF2 RAB1B KIF18A PUS3 MFRP C11orf68 MS4A8 JAM3 FERMT3 TRPT1 RBM4B FRMD8 BCO2 TMPRSS13 FHIP1B RNASEH2C FAR1 TMEM126A DCUN1D5 BTBD10 EIF1AD NUDT22 ARFGAP2 MSANTD4 MAML2 SYVN1 KIRREL3 DGAT2 ACCS MS4A14 TRIM51 BUD13 TMEM25 PTPN5 RPUSD4 TBRG1 RELT UBASH3B CFAP300 LGALS12 TRIM5 TNKS1BP1 DIXDC1 CEP295 ZC3H12C GAL3ST3 NAV2 ATG16L2 GLB1L2 SYT8 TSPAN18 ESAM CREB3L1 AP5B1 CCDC34 SLC39A13 DEPDC7 SYT12 ACY3 ALKBH8 FDXACB1 C11orf52 INTS4 GLYATL1 CAVIN3 VPS26B GLB1L3 CDCA5 SAAL1 SLC22A9 TIRAP CARD16 OSBPL5 C1QTNF4 C1QTNF5 TMEM123 PTPMT1 LRRC56 BATF2 SLC22A12 PANX3 MRGPRD APOA5 MRGPRE MRGPRF ART5 ARAP1 CATSPER1 MRGPRX2 MRGPRX3 MRGPRX4 PLAAT5 TRIM6 OR52E2 OR52J3 OR51L1 OR51A7 OR51S1 OR51F2 OR52R1 IFTAP OR4C46 OR4X2 OR4B1 OR52M1 OR52K2 OR5P2 OR5P3 LARGE2 SLC36A4 FAT3 TRIM64 TMEM45B CYP2R1 DBX1 POU2AF3 PIH1D2 NXPE1 NXPE2 JAML DNAJC24 ARL14EP OR8I2 OR2D3 OR2D2 OR52W1 OR56A4 OR56A1 SYT9 LDLRAD3 OR52B4 C11orf40 OR52I2 OR51E1 XRRA1 UBQLNL MUC15 FREY1 FAM76B SESN3 PIWIL4 ARHGAP42 KBTBD3 CWF19L2 POGLUT3 LAYN TTC36 SPINDOC PLEKHA7 SPTY2D1 TMEM86A OR10A5 OR2AG1 DNHD1 AMOTL1 SLC5A12 DEUP1 PATE1 C11orf65 LDHAL6A C11orf42 GPHA2 ADAMTS15 NLRP6 B3GNT6 METTL15 MPZL3 IMMP1L OR56B4 ANO5 OR8U1 OR4C16 OR4C11 OR4S2 OR4C6 OR5D14 OR5L1 OR5D18 OR5AS1 OR8K5 OR5T2 OR8H1 OR8K3 OR8J1 OR8U3 OR5M3 OR5M8 OR5M11 OR5AR1 LRRC55 SMTNL1 YPEL4 MED19 FOLH1B KCNJ5-AS1 HYLS1 TMEM218 SLC37A2 OR8B12 OR8G5 OR10G8 OR10G9 OR10S1 OR6T1 OR4D5 TBCEL TLCD5 MRPL21 TPCN2 SPATA19 OR6Q1 OR9I1 OR9Q1 OR9Q2 OR1S2 OR1S1 OR10Q1 OR5B17 OR5B21 GLYATL2 MPEG1 OR5A2 OR5A1 OR4D6 OR4D11 PATL1 OOSP2 MS4A15 VWCE CYB561A3 SAXO4 GDPD4 DDIAS CCDC83 LTO1 LRTOMT HEPACAM OAF TIGD3 FAM181B CCDC89 LRRN4CL HNRNPUL2 ALKBH3 MS4A6E DEFB108B PELI3 ANGPTL5 EHBP1L1 SNX32 TSGA10IP RNF169 CNIH2 ZDHHC24 C11orf86 NUDT8 ANKK1 OR52B2 OR4C3 OR4S1 LMNTD2 EML3 TMEM151A OR51F1 RNF214 SVIP MRGPRX1 NPAS4 SELENOH AQP11 OR51B5 OR10AG1 OR5J2 OR4C13 OR4C12 CSNK2A3 OR51V1 TRIM49B H19 MAJIN SLC25A45 NEAT1 BCL9L FOXR1 DRC12 OR8D1 OR8D2 OR8B4 LINC02873 OR9G4 P4HA3 PGM2L1 KLHL35 KCTD21 CRACR2B TMEM80 CCDC88B TTC9C SLC22A24 RCOR2 HARBI1 LINC00294 IGSF22 OR10A4 OLFML1 NLRP10 NLRP14 ANO9 LUZP2 CENATAC TMEM225 OR8D4 OR5F1 OR5AP2 ANKRD13D ANKRD42 B4GALNT4 OR52L1 OR2AG2 OR52B6 OTOG DCDC1 POU2AF2 MS4A10 OR2AT4 HEPHL1 OR10A2 OVCH2 TBX10 GATD1 PLET1 RTN4RL2 GALNT18 NCR3LG1 FAM111B TMEM179B TBC1D10C DNAJB13 MALAT1 MRGPRG KRTAP5-1 KRTAP5-3 KRTAP5-4 KRTAP5-10 SLC22A25 IFITM5 OR56B1 INSC FIBIN C11orf96 SLC22A10 SPDYC LIPT2 VSTM5 OR52K1 OR52I1 OR51D1 OR52A5 OR51B6 OR51M1 OR51Q1 OR51I1 OR51I2 OR52D1 OR52H1 OR52N4 OR52N5 OR52N2 OR52E6 OR52E8 OR52E4 OR56A3 OR56A5 OR10A6 ACCSL OR4X1 OR5D13 OR5D16 OR5W2 OR8H2 OR8H3 OR5T3 OR5T1 OR8K1 OR5M9 OR5M10 OR5M1 OR9G1 OR5AK2 OR5B2 OR5B12 OR5AN1 OR4D10 OR4D9 OR10V1 LRRC10B GPR152 TRIM77 IZUMO1R KDM4E BSX OR6X1 OR6M1 OR10G4 OR10G7 OR8B3 OR8A1 FAM180B PCNX3 TRIM49D1 C11orf87 HOATZ PATE2 PATE4 SNX19 OR51T1 OR51A4 OR51A2 IFITM10 OR4A47 SCGB1D4 MIRLET7A2 MIR100 MIR125B1 MIR130A MIR139 MIR192 MIR194-2 MIR210 MIR34B MIR34C DDI1 BLID KRTAP5-5 KRTAP5-2 KRTAP5-6 TMEM41B KRTAP5-7 KRTAP5-11 CARD17P OR5B3 MIR326 CCDC73 BDNF-AS MS4A13 HEPN1 TRIM64B TRIM49C UBTFL1 BTBD18 MS4A4E PGA3 PGA4 CLDN25 RASSF10 LINC02743 TRIM64C SNORA3B LMNTD2-AS1 MIR610 INS-IGF2 MUC5B MIR34BHG MS4A18 LINC02714 TRIM49D2 CSKMT UQCC3 C11orf91 ZNF705EP LOC100132686 PATE3 ARHGEF17-AS1 BACE1-AS MTRNR2L8 CCDC179 NDUFV1-DT ARAP1-AS2 MIR210HG CASP12 TPBGL RBM14-RBM4 SAA2-SAA4 NDUFC2-KCTD14 FXYD6-FXYD2 MADD-AS1 LOC101929473
- Associated Variants
- GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) AND See cases
- ClinVar Allele ID
- 435566
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000511729
- Observed Origin Sample
- not provided
Drugs