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
Non-alcoholic Fatty Liver Disease
Source Database
DisGeNET
Description
Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea.
Pubmed
25069572
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.264896707361267
Year of publication
2014
Drugs