Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC6 p.Met1097Val (p.M1097V)
(
ENST00000355832.10,
ENST00000681659.1 )
BIVM-ERCC5 p.Met708Val (p.M708V), ERCC5 p.Met254Val (p.M254V) ( ENST00000652613.1, ENST00000652225.2, ENST00000639435.1, ENST00000639132.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652613.1, ENST00000652225.2, ENST00000639435.1, ENST00000639132.1 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
ERCC4 p.Glu875Gly (p.E875G) ( ENST00000311895.8, ENST00000682617.1 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC6 p.Met1097Val (p.M1097V) ( ENST00000355832.10, ENST00000681659.1 )
BIVM-ERCC5 p.Met708Val (p.M708V), ERCC5 p.Met254Val (p.M254V) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
ERCC4 p.Glu875Gly (p.E875G) ( ENST00000311895.8, ENST00000682617.1 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526.
- Pubmed
- 18767034
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2008
Drugs