Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC MUTATION
XPC MUTATION
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased risk of CRC.
- Pubmed
- 25355595
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0074484826780071
- Year of publication
- 2014
Drugs