Annotation Detail

Information
Associated Genes
PARP1
Associated Variants
PARP1 MUTATION
PARP1 MUTATION
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
Associated Disease
Glioma
Source Database
DisGeNET
Description
Interestingly, the risk for glioma was dramatically increased in ionizing radiation exposure individuals who had the wild-type genotypes of MGMT F84L and PARP1 A762V (adjusted odds ratios, 5.95; 95% confidence intervals, 2.21-16.65).
Pubmed
19124499
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0112586004087955
Year of publication
2009
Drugs