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
obesity
Source Database
DisGeNET
Description
Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight and overweight/obese Mexican children.
Pubmed
23510779
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.029989427713988
Year of publication
2013
Drugs