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
- Paroxysmal atrial tachycardia
- Source Database
- DisGeNET
- Description
- Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val and PAT-/+) of Xeroderma pigmentosum group C (XPC) gene and bladder cancer susceptibility; however, the findings are inconclusive.
- Pubmed
- 23918308
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00570027931368637
- Year of publication
- 2013
Drugs