Annotation Detail

Information
Associated Genes
CYP2A13
Associated Variants
CYP2A13 p.Arg101Ter (p.R101*) ( ENST00000330436.4 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1C p.Ile350Phe (p.I350F) ( ENST00000515683.6 )
ADH1C p.Ile350Val (p.I350V) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 )
CYP2A13 p.Arg101Ter (p.R101*) ( ENST00000330436.4 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1C p.Ile350Phe (p.I350F) ( ENST00000515683.6 )
ADH1C p.Ile350Val (p.I350V) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 )
Associated Disease
pancreatic carcinoma
Source Database
DisGeNET
Description
Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of exposure-related cancers, we studied the association of polymorphisms in the tobacco carcinogen-metabolizing gene CYP2A13 (Arg101Stop) and the alcohol-metabolizing genes ADH1B (Arg48His) and ADH1C (Ile350Val) with pancreatic cancer risk.
Pubmed
19812523
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2010
Drugs