Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
ATM c.-1149G>A ( ENST00000601453.3, ENST00000530958.5, ENST00000532931.6, ENST00000531525.3, ENST00000683468.1, ENST00000683914.2, ENST00000675843.1, ENST00000452508.7 )
NC_000011.10:g.94493959C>A
ATM SNV
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
PMS1 c.-24G>C ( ENST00000374826.8, ENST00000409823.7, ENST00000409985.5, ENST00000418224.7, ENST00000432292.7, ENST00000441310.7, ENST00000447232.6, ENST00000618056.4, ENST00000624204.3 )
MBD4 p.Glu346Lys (p.E346K) ( ENST00000249910.5, ENST00000393278.6, ENST00000429544.7, ENST00000503197.5, ENST00000507208.1 )
ATM c.-1149G>A ( ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000675843.1, ENST00000683468.1, ENST00000683914.2 )
NC_000011.10:g.94493959C>A
ATM SNV
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
PMS1 c.-24G>C ( ENST00000374826.8, ENST00000409823.7, ENST00000409985.5, ENST00000418224.7, ENST00000432292.7, ENST00000441310.7, ENST00000447232.6, ENST00000618056.4, ENST00000624204.3 )
MBD4 p.Glu346Lys (p.E346K) ( ENST00000249910.5, ENST00000393278.6, ENST00000429544.7, ENST00000503197.5, ENST00000507208.1 )
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933.
Pubmed
21739480
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0195438147897818
Year of publication
2012
Drugs