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
- adenoma
- Source Database
- DisGeNET
- Description
- Interestingly, individuals with the XPD Lys751Gln polymorphism had an increased risk of low-risk adenomas.
- Pubmed
- 16542436
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2006
Drugs