Annotation Detail

Information
Associated Genes
ERCC4
Associated Variants
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 )
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 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies.
Pubmed
21424776
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00352874433704394
Year of publication
2011
Drugs