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
Steatohepatitis
Source Database
DisGeNET
Description
Carriage of the PNPLA3 rs738409 C >G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC.
Pubmed
24607626
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00922902365073031
Year of publication
2014
Drugs