Annotation Detail
Information
- Associated Genes
- ABCA1 ALAD ALDH1A1 ALDOB AMBP ANXA1 APBA1 AUH BAAT KLF9 TNFSF8 CKS2 COL15A1 SLC31A1 SLC31A2 CTSL CTSV CYLC2 DAPK1 BRINP1 ECM2 LPAR1 S1PR3 FANCC FBP1 FKTN FOXE1 FXN GAS1 GCNT1 GNAQ GNG10 HNRNPK HSD17B3 TNC IARS1 MUSK NCBP1 NFIL3 NINJ1 NTRK2 ROR2 OMD OGN ORM1 ORM2 PAPPA PCSK5 PHF2 PPP3R2 PRKACG PTCH1 PTPN3 RAD23B RGS3 RORB SYK TAL2 TGFBR1 TLE1 TLE4 TLR4 TMOD1 TXN UGCG CORO2A XPA ZFP37 ZNF189 ZFAND5 NR4A3 PIP5K1B ELP1 CDC14B TMEFF1 CTNNAL1 FBP2 PRPF4 KLF4 ENTREP1 TJP2 ATP6V1G1 GABBR2 GDA GNA14 TRIM14 TNFSF15 PTBP3 SEMA4D ANP32B SPTLC1 SMC2 ACTL7B ACTL7A GADD45G SPIN1 SEC61B SLC35D2 ZNF510 HABP4 PTGR1 TRIM32 ERP44 SMC5 FAM120A VPS13A ASTN2 AGTPBP1 BICD2 FKBP15 ECPAS TDRD7 SLC44A1 CDK20 CEMIP2 TMEM245 FRRS1L WHRN NIPSNAP3A OR2K2 OSTF1 INVS PSAT1 UBQLN1 DELEC1 PCA3 ABHD17B GOLM1 TRMO SHC3 POLE3 NANS MRPL50 EPB41L4B NUTM2F DIRAS2 ASPN BSPRY TEX10 ABITRAM NMRK1 STX17 NOL8 C9orf40 TMEM38B RFK NIPSNAP3B TBC1D2 HEMGN KIF27 BARX1 RNF20 SLC46A2 INIP ZNF462 NAA35 SLC28A3 SUSD1 IPPK WNK2 SECISBP2 TUT7 GALNT12 SVEP1 RMI1 TRPM3 GKAP1 AKNA ISCA1 HDHD3 ZNF484 FSD1L CEP78 HSDL2 QNG1 CARD19 PGAP4 MFSD14B AOPEP COL27A1 ALG2 FGD3 MSANTD3 KIF12 WDR31 ZNF618 PABIR1 GRIN3A TMC1 RNF183 CARNMT1 C9orf57 C9orf85 CFAP95 PTPDC1 PRSS47P OR13C5 OR13C8 OR13C3 OR13C4 OR13F1 TRPM6 NXNL2 RASEF FAM120AOS ZNF483 SHOC1 KIAA1958 TSTD2 ZNF782 PRUNE2 ZNF883 ZNF169 PRXL2C ZNF367 TMEM268 ANKS6 SUSD3 CDC26 TXNDC8 MAMDC2 FRMD3 C9orf43 SPATA31E1 OR13C9 OR13D1 CAVIN4 PTAR1 ERCC6L2 SPATA31D4 SPATA31D3 SPATA31D1 C9orf153 OR13C2 LINC02872 CENPP C9orf152 SNX30 MIRLET7A1 MIRLET7D MIRLET7F1 MIR204 MIR23B MIR24-1 MIR27B MIR32 MIR7-1 IDNK SPATA31C1 NUTM2G FOXB2 PALM2AKAP2 PAPPA-AS1 DNAJC25 DNAJC25-GNG10 SPATA31C2 CCDC180 DAPK1-IT1 MSANTD3-TMEFF1 BANCR CARNMT1-AS1
- Associated Variants
- GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)
- Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) AND not specified
- ClinVar Allele ID
- 1519010
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-03-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002053853
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs