Annotation Detail
Information
- Associated Genes
- TM6SF2
- Associated Variants
-
TM6SF2 p.Glu167Lys (p.E167K)
(
ENST00000389363.5 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- Non-alcoholic Fatty Liver Disease
- Source Database
- DisGeNET
- Description
- Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD.
- Pubmed
- 25763607
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121628651232482
- Year of publication
- 2015
Drugs