Annotation Detail

Information
Associated Genes
GSTP1
Associated Variants
GSTP1 MUTATION
GSTP1 MUTATION
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
Carcinogenesis
Source Database
DisGeNET
Description
XRCC1 Arg399Gln and GSTP1 Ile104Val polymorphisms may influence the CIHM status in the rectal mucosa of UC patients and may be substantially involved in UC-associated carcinogenesis.
Pubmed
21234761
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00922902365073031
Year of publication
2011
Drugs