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
PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic characteristics and the role of the variant in nonalcoholic fatty liver fibrosis.
Pubmed
25624712
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.264896707361267
Year of publication
2014
Drugs