Annotation Detail

Information
Associated Genes
ERCC5
Associated Variants
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652613.1, ENST00000652225.2, ENST00000639435.1, ENST00000639132.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementation group G (XPG) was associated with the susceptibility to colorectal cancer (CRC), although the results were inconsistent.
Pubmed
25332048
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00190009310456212
Year of publication
2014
Drugs