Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Lys751Ter (p.K751*)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
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
- The results support the hypothesis that the Lys751Gln polymorphism of XPD gene may be associated with the incidence of breast cancer.
- Pubmed
- 18459458
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0081432561624091
- Year of publication
- 2007
Drugs