Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of the effect of the PNPLA3 rs738409 polymorphism in our population of obese Taiwanese children.
- Pubmed
- 23269818
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.029989427713988
- Year of publication
- 2013
Drugs