Annotation Detail

Information
Associated Genes
ALDH2
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
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loci for ESCC in Chinese Han population and interact substantially with alcohol consumption.
Pubmed
21157980
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.125971721185767
Year of publication
2010
Drugs