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
Metabolic syndrome X
Source Database
DisGeNET
Description
First, we analyze the impact of demographic and ethnic characteristics of the PNPLA3 I148M variant and the presence of metabolic syndrome on the association between PNPLA3 I148M and NAFLD.
Pubmed
25624712
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00663415706176619
Year of publication
2014
Drugs