Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC MUTATION
XPC MUTATION
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- adenoma
- Source Database
- DisGeNET
- Description
- Smoking was related to adenoma risk and XPC polymorphisms (R492H, A499V, K939Q) modified these effects (P(interaction) from 0.03-0.003).
- Pubmed
- 16492920
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00299579211454747
- Year of publication
- 2006
Drugs