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
Alcoholic Liver Diseases
Source Database
DisGeNET
Description
In addition, the PNPLA3 single-nucleotide polymorphism rs738409 (M148I) was reported to be associated with advanced alcoholic liver disease in alcohol-dependent individuals of Mestizo descent.
Pubmed
21254164
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127448482678007
Year of publication
2011
Drugs