Annotation Detail
Information
- Associated Genes
- ADM AP2A2 AMPD3 APBB1 RHOG BMAL1 ART1 ASCL2 BDNF MPPED2 CALCA CALCB CARS1 CAT CCKBR CD44 CD59 CD81 CD151 CDKN1C TPP1 CNGA4 COPB1 CSTF3 CTSD DRD4 DUSP8 EIF4G2 ELF5 FANCF FSHB GAS2 GTF2H1 HBB HBD HBE1 HBG1 HBG2 HPX HRAS IGF2 ILK INS IRF7 KCNA4 KCNC1 KCNJ11 KCNQ1 LDHA LDHC LMO1 LMO2 LSP1 CAPRIN1 MUC2 MUC5AC MUC6 MYOD1 NAP1L4 NELL1 NUCB2 NUP98 SLC22A18 SLC22A18AS PAX6 PDE3B PIK3C2A POLR2L PSMA1 PSMD13 PTH RAG1 RAG2 RCN1 RNH1 MRPL23 RPL27A RPLP2 RPS13 RRM1 SAA1 SAA2 SAA4 SCT SLC1A2 SMPD1 TRIM21 DENND2B STIM1 ABCC8 TAF10 TALDO1 TEAD1 TH TSPAN4 TNNI2 TNNT3 TPH1 TRAF6 TSG101 PHLDA2 TUB WEE1 WT1 ZNF143 ZNF195 ZNF214 ZNF215 RASSF7 CSRP3 PDHX BBOX1 PPFIBP2 IFITM1 OR6A2 DCHS1 EIF3F BRSK2 SLC6A5 MICAL2 CTR9 TRIM66 TSPAN32 TSSC4 USH1C HIPK3 PRMT3 IRAG1 TRIM22 IFITM3 SPON1 EIF3M DEAF1 IPO7 HTATIP2 IFITM2 TRIM3 LYVE1 C11orf58 KCNQ1OT1 PKP3 HPS5 RRAS2 SWAP70 DENND5A RRP8 SIRT3 OR52A1 ARFIP2 FJX1 KIAA1549L ABTB2 PAMR1 FBXO3 SERGEF EHF OR10A3 TIMM10B ELP4 DKK3 RBMXL2 PGAP2 COMMD9 C11orf21 TRPM5 UBQLN3 RNF141 APIP IGF2-AS CEND1 WT1-AS CYB5R2 TRIM34 CDHR5 TOLLIP ZDHHC13 TRIM44 USP47 TRIM68 NAT10 UEVLD LIN7C TCP11L1 LGR4 PIDD1 KCNQ1DN SOX6 PARVA MMP26 AKIP1 C11orf16 TMEM9B NRIP3 ASCL3 CHRNA10 SLC17A6 PNPLA2 PHRF1 SCUBE2 ZBED5 SIGIRR MRPL17 ANO3 EPS8L2 STK33 CHID1 PRRG4 OR51G1 OR51B4 OR51B2 OR52N1 RIC3 E2F8 SLC25A22 QSER1 PRR5L PGGHG OR51G2 OR51E2 PTDSS2 MOB2 SBF2 KIF18A FHIP1B FAR1 BTBD10 PTPN5 TRIM5 NAV2 SYT8 CCDC34 DEPDC7 CAVIN3 SAAL1 OSBPL5 LRRC56 MRGPRE ART5 MRGPRX2 MRGPRX3 MRGPRX4 TRIM6 OR52E2 OR52J3 OR51L1 OR51A7 OR51S1 OR51F2 OR52R1 IFTAP OR52M1 OR52K2 OR5P2 OR5P3 CYP2R1 DBX1 DNAJC24 ARL14EP OR2D3 OR2D2 OR52W1 OR56A4 OR56A1 SYT9 LDLRAD3 OR52B4 C11orf40 OR52I2 OR51E1 UBQLNL MUC15 PLEKHA7 SPTY2D1 TMEM86A OR10A5 OR2AG1 DNHD1 SLC5A12 LDHAL6A C11orf42 NLRP6 METTL15 IMMP1L OR56B4 ANO5 OR52B2 LMNTD2 OR51F1 SVIP MRGPRX1 OR51B5 CSNK2A3 OR51V1 H19 CRACR2B TMEM80 LINC00294 IGSF22 OR10A4 OLFML1 NLRP10 NLRP14 ANO9 LUZP2 B4GALNT4 OR52L1 OR2AG2 OR52B6 OTOG DCDC1 OR10A2 OVCH2 GATD1 GALNT18 NCR3LG1 MRGPRG KRTAP5-1 KRTAP5-3 KRTAP5-4 IFITM5 OR56B1 INSC FIBIN OR52K1 OR52I1 OR51D1 OR52A5 OR51B6 OR51M1 OR51Q1 OR51I1 OR51I2 OR52D1 OR52H1 OR52N4 OR52N5 OR52N2 OR52E6 OR52E8 OR52E4 OR56A3 OR56A5 OR10A6 OR51T1 OR51A4 OR51A2 IFITM10 MIR210 KRTAP5-5 KRTAP5-2 KRTAP5-6 TMEM41B CCDC73 BDNF-AS RASSF10 SNORA3B LMNTD2-AS1 MIR610 INS-IGF2 MUC5B C11orf91 MTRNR2L8 CCDC179 MIR210HG SAA2-SAA4
- Associated Variants
- GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 AND See cases
- ClinVar Allele ID
- 435377
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-06-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000511561
- Observed Origin Sample
- not provided
Drugs