Annotation Detail
Information
- Associated Genes
- ACTC1 ADAM10 ACAN ANPEP ANXA2 AQP9 B2M BBS4 BCL2A1 BLM BNC1 BNIP2 BUB1B CA12 CAPN3 CHRM5 CHRNA3 CHRNA5 CHRNB4 CKMT1B CLK3 CRABP1 CSK CSPG4 CTSH CYP1A1 CYP1A2 CYP11A1 CYP19A1 DUT EPB42 ETFA FAH FBN1 FGF7 GABPB1 GALK2 GANC GATM GCHFR PDIA3 GTF2A2 HDC HEXA ONECUT1 IDH2 IDH3A IL16 IREB2 ISG20 ISLR ITPKA IVD LIPC LOXL1 LTK SMAD3 SMAD6 MAN2C1 MAP1A MEIS2 MFAP1 MFGE8 MPI MYO1E MYO5A MYO9A NEDD4 NEO1 NMB NTRK3 OAZ2 PDE8A PKM PLCB2 PLIN1 PML POLG PPIB MAPK6 MAP2K1 MAP2K5 PSMA4 PTPN9 RAB27A RAD51 RASGRF1 RCN2 RLBP1 RORA RPL4 RPLP1 RPS17 RYR3 SCG5 SH3GL3 SLC12A1 SNX1 SORD SPINT1 SRP14 TCF12 THBS1 TLE3 TP53BP1 TPM1 TYRO3 SLC30A4 AP3B2 ANP32A SEMA7A CILP PIAS1 EIF3J RAB11A SNAP23 PEX11A IQGAP1 ALDH1A2 HERC1 PSTPIP1 USP8 CCNB2 SLC28A2 SLC28A1 SLC24A1 CCPG1 GCNT3 COPS2 TRIP4 TGM5 COX5A STOML1 HOMER2 PIGB KIF23 IGDCC3 ZNF592 PPIP5K1 AQR SECISBP2L PCLAF LCMT2 ARNT2 USP3 SLC12A6 NR2E3 BCL2L10 HCN4 SCAMP2 SNUPN PDCD7 TSPAN3 FEM1B RASGRP1 SERF2 AP3S2 DENND4A SNAPC5 HMG20A CORO2B SEMA4B CIB2 CIB1 MTHFS ARID3B GNB5 ARPP19 CLPX MORF4L1 SLC27A2 ABHD2 ADAMTS7 AKAP13 GPR176 CHP1 OIP5 ITGA11 BAHD1 CEP152 MAPKBP1 GOLGA8A ZNF609 TBC1D2B RTF1 MESD ACSBG1 MINAR1 MGA DMXL2 VPS39 TMED3 AP4E1 SEC11A CCNDBP1 DAPK2 EID1 HYPK ARIH1 SIN3A TMEM87A ULK3 RPAP1 GLCE PYGO1 BLOC1S6 FBXO22 GREM1 MRPL46 RNU6-1 RNU5A-1 NPTN FOXB1 RPUSD2 TUBGCP4 SCG3 TMOD3 TMOD2 EHD4 SCAPER DUOX2 MYEF2 RPS27L NDUFAF1 RSL24D1 NUSAP1 EMC4 RASL12 SPG21 SPTBN5 NGRN RHCG HACD3 CTDSPL2 RAB8B BTBD1 TM6SF1 DUOX1 CSNK1G1 ZFAND6 DLL4 INO80 MINDY2 RNF111 ZNF280D TRPM7 VPS13C LRRC49 PAQR5 PPP1R14D DPP8 RPP25 COMMD4 PARP16 TIPIN CLN6 ZNF770 ZSCAN2 ZWILCH DET1 UACA HAUS2 RMDN3 DNAJC17 FANCI IMP3 LARP6 MNS1 DNAJA4 NOP10 GOLGA6B MESP1 MYO5C ATOSA EMC7 C15orf39 THAP10 PAK6 WDR93 PARP6 DTWD1 KNL1 AVEN FAM219B ADAMTSL3 CEMIP GJD2 STARD9 ALPK3 ISLR2 VPS18 IGDCC4 SQOR ABHD17C TLNRD1 PPCDC CELF6 STRA6 ZNF106 KLHL25 CPEB1 AEN CRTC3 IQCH ISL2 RFX7 MRPS11 AFG2B CHAC1 NOX5 EFL1 NEIL1 ICE2 AAGAB LMAN1L KATNBL1 SLTM PEAK1 SNX22 THSD4 ATP8B4 WDR76 TMEM62 SEMA6D PIF1 CCDC33 EDC3 SPG11 ELL3 PLEKHO2 SKIC8 CD276 STARD5 POLR2M INTS14 ADPGK APH1B RAMAC TLN2 CIAO2A MEX3B C15orf48 MEGF11 CDIN1 SPPL2A LINGO1 ZFYVE19 WDR73 CGNL1 FRMD5 UBL7 DISP2 DPH6 TICRR CCDC32 KNSTRN BMF SHF DUOXA1 CALML4 LDHAL6B UBE2Q2 CHST14 GOLM2 LACTB DIS3L TGM7 CATSPER2 LEO1 C15orf40 SENP8 MTFMT SLC51B TMEM266 AGBL1 HYKK WHAMM FSD2 PLA2G4E TRIM69 TERB2 C2CD4A FAM81A PIERCE2 C15orf61 HAPLN3 MESP2 TMCO5A NRG4 ZSCAN29 TTBK2 CDAN1 STRC CFAP161 TBC1D21 DNAAF4 SPRED1 CIMAP1C PGBD4 ADAL EXD1 FSIP1 RHOV SCAMP5 FAM227B CT62 GRAMD2A LCTL UBR1 PATL2 SPESP1 LPCAT4 PLA2G4F LRRC57 LYSMD2 NUTM1 WDR72 SNX33 SLC24A5 PRTG REC114 SAXO2 FAM98B PLA2G4D LINC00928 FBXL22 TMEM202 GLDN GOLGA6A TMC3 ZNF774 RBPMS2 ANKDD1A ARPIN USP50 TEX9 KIF7 ZNF710 CCDC9B TNFAIP8L3 C2CD4B INSYN1 KBTBD13 UBAP1L SKOR1 ANKRD34C GDPGP1 SHC4 CTXN2 LINC02694 LINC02915 ST20 DUOXA2 MIR184 MIR9-3 GOLGA8B EIF2AK4 UNC13C CKMT1A CPLX3 SERINC4 C15orf62 PAK6-AS1 PHGR1 SH2D7 GOLGA6C GOLGA6D SCARNA15 ANKRD63 JMJD7 PLA2G4B ARPIN-AP3S2 ST20-MTHFS MYZAP
- Associated Variants
- NC_000015.9:g.(?_32964879)_(91358519_?)dup AND Familial colorectal cancer
- Associated Disease
- Bloom syndrome
- Source Database
- ClinVar
- Description
- NC_000015.9:g.(?_32964879)_(91358519_?)dup AND Bloom syndrome
- ClinVar Allele ID
- 1001750
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-02-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001343104
- ClinVar Disease
- Bloom syndrome
- Observed Origin Sample
- germline
Drugs