Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
TM6SF2 p.Glu167Lys (p.E167K)
(
ENST00000389363.5 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- Non-alcoholic Fatty Liver Disease
- Source Database
- DisGeNET
- Description
- A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect.
- Pubmed
- 25302781
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.264896707361267
- Year of publication
- 2014
Drugs