Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
ERCC2 p.Lys751Ter (p.K751*)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 ) - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibility to colorectal carcinoma with or without oxidative stress were evaluated.
- Pubmed
- 20649433
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2010
Drugs