Annotation Detail
Information
- Associated Genes
- ALDH2
- Associated Variants
-
ALDH2 p.Glu504Lys (p.E504K)
(
ENST00000261733.7,
ENST00000416293.7 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 ) - Associated Disease
- Squamous cell carcinoma of esophagus
- Source Database
- DisGeNET
- Description
- We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility.
- Pubmed
- 19698717
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125971721185767
- Year of publication
- 2009
Drugs