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
Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur and Han ethnic groups of northwestern China.
Pubmed
25290313
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.264896707361267
Year of publication
2014
Drugs