Annotation Detail

Information
Associated Genes
AVP
Associated Variants
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ADH1C p.Arg272Gln (p.R272Q) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ADH1C p.Arg272Gln (p.R272Q) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 )
Associated Disease
pancreatic carcinoma
Source Database
DisGeNET
Description
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehydrogenase (ADH) 1B His48Arg, and ADH1C Arg272Gln on PC risk was examined with multivariate analysis adjusted for potential confounders to estimate odds ratios (ORs) and 95% confidence intervals (CIs).
Pubmed
19068087
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs