Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- Liver Cirrhosis, Alcoholic
- Source Database
- DisGeNET
- Description
- PNPLA3 genetic polymorphism (rs738409 C>G) is associated with increased risk for the entire spectrum of ALD among drinkers including ALI, AC, and HCC.
- Pubmed
- 25964223
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126905598933846
- Year of publication
- 2015
Drugs