Annotation Detail
Information
- Associated Genes
- ADH1B
- Associated Variants
-
ADH1B MUTATION
ADH1B MUTATION
ADH1B p.Arg272Gln (p.R272Q) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1C p.Arg370Cys (p.R370C) ( ENST00000515683.6 )
ADH1C p.Arg370Gly (p.R370G) ( ENST00000515683.6 )
ADH1C p.Ile350Phe (p.I350F) ( ENST00000515683.6 )
ADH1C p.Ile350Val (p.I350V) ( ENST00000515683.6 )
ADH1C p.Arg272Gln (p.R272Q) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 )
ADH1B p.Arg272Gln (p.R272Q) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1C p.Arg370Cys (p.R370C) ( ENST00000515683.6 )
ADH1C p.Arg370Gly (p.R370G) ( ENST00000515683.6 )
ADH1C p.Ile350Phe (p.I350F) ( ENST00000515683.6 )
ADH1C p.Ile350Val (p.I350V) ( ENST00000515683.6 )
ADH1C p.Arg272Gln (p.R272Q) ( ENST00000515683.6 )
ADH1C p.Arg48Leu (p.R48L) ( ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 ) - Associated Disease
- Liver diseases
- Source Database
- DisGeNET
- Description
- The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase polymorphisms (Arg48His and Arg370Cys in ADH1B, Arg272Gln and Ile350Val in ADH1C) on the alcohol use habits, alcohol dependence and chronic liver diseases in Hungary.
- Pubmed
- 22048268
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00372424133900355
- Year of publication
- 2011
Drugs