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
Age and HOMA-IR were positive independent predictors of metabolic syndrome, while a negative independent association was found between metabolic syndrome and the homozygotes PNPLA3 I148M variant.
Pubmed
24947770
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00663415706176619
Year of publication
2014
Drugs