Annotation Detail
Information
- Associated Genes
- AP2A2 APBB1 RHOG ART1 ASCL2 CARS1 CCKBR CD81 CD151 CDKN1C TPP1 CNGA4 CTSD DRD4 DUSP8 HBB HBD HBE1 HBG1 HBG2 HPX HRAS IGF2 ILK INS IRF7 KCNQ1 LMO1 LSP1 MUC2 MUC5AC MUC6 NAP1L4 NUP98 SLC22A18 SLC22A18AS POLR2L PSMD13 RNH1 MRPL23 RPLP2 RRM1 SCT SMPD1 TRIM21 STIM1 TAF10 TALDO1 TH TSPAN4 TNNI2 TNNT3 PHLDA2 TUB ZNF195 ZNF214 ZNF215 RASSF7 PPFIBP2 IFITM1 OR6A2 DCHS1 EIF3F BRSK2 TRIM66 TSPAN32 TSSC4 TRIM22 IFITM3 DEAF1 IFITM2 TRIM3 KCNQ1OT1 PKP3 RRP8 SIRT3 OR52A1 ARFIP2 OR10A3 TIMM10B RBMXL2 PGAP2 C11orf21 TRPM5 UBQLN3 IGF2-AS CEND1 CYB5R2 TRIM34 CDHR5 TOLLIP TRIM68 PIDD1 KCNQ1DN MMP26 CHRNA10 PNPLA2 PHRF1 SIGIRR RIC8A MRPL17 EPS8L2 STK33 CHID1 OR51G1 OR51B4 OR51B2 OR52N1 RIC3 SLC25A22 PGGHG OR51G2 OR51E2 PTDSS2 MOB2 FHIP1B TRIM5 SYT8 CAVIN3 OSBPL5 LRRC56 MRGPRE ART5 TRIM6 OR52E2 OR52J3 OR51L1 OR51A7 OR51S1 OR51F2 OR52R1 OR52M1 OR52K2 OR5P2 OR5P3 OR2D3 OR2D2 OR52W1 OR56A4 OR56A1 SYT9 OR52B4 C11orf40 OR52I2 OR51E1 UBQLNL OR10A5 OR2AG1 DNHD1 C11orf42 NLRP6 OR56B4 OR52B2 LMNTD2 OR51F1 OR51B5 OR51V1 H19 CRACR2B TMEM80 OR10A4 OLFML1 NLRP10 NLRP14 ANO9 B4GALNT4 OR52L1 OR2AG2 OR52B6 OR10A2 OVCH2 GATD1 MRGPRG KRTAP5-1 KRTAP5-3 KRTAP5-4 IFITM5 OR56B1 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 LMNTD2-AS1 INS-IGF2 MUC5B MIR210HG
- Associated Variants
- GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3
- Associated Disease
- Silver-Russell syndrome 1
- Source Database
- ClinVar
- Description
- GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 AND Silver-Russell syndrome 1
- ClinVar Allele ID
- 969295
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001263222
- ClinVar Disease
- Silver-Russell syndrome 1
- Observed Origin Sample
- germline
Drugs