Annotation Detail

Information
Associated Genes
GSTM1
Associated Variants
CYP2E1 c.-117-695G>C ( ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
CYP2E1 c.-117-695G>C ( ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
Associated Disease
Malignant neoplasm of mouth
Source Database
DisGeNET
Description
GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.
Pubmed
21741876
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0163301195865364
Year of publication
2011
Drugs