Annotation Detail
Information
- Associated Genes
- ADH1C
- Associated Variants
-
ALDH2 p.Glu504Lys (p.E504K)
(
ENST00000261733.7,
ENST00000416293.7 )
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 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
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 ) - Associated Disease
- Alcohol abuse
- Source Database
- DisGeNET
- Description
- Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is prognostic of alcohol-related cancer and its predictivity increases when combined with functional polymorphisms of alcohol dehydrogenase (ADH1B [rs1229984] and ADH1C [rs698]) and the mitochondrial aldehyde dehydrogenase (ALDH2 [rs671]).
- Pubmed
- 21917409
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0126494855092511
- Year of publication
- 2012
Drugs