Annotation Detail

Information
Associated Genes
AKR1A1
Associated Variants
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) His47Arg, which have a strong impact on alcohol metabolism, are common in Japanese population but their significance for CRC carcinogenesis remains to be clarified in detail.
Pubmed
16332725
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00217153497664243
Year of publication
2006
Drugs