Annotation Detail

Information
Associated Genes
TM6SF2
Associated Variants
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
Associated Disease
Non-alcoholic Fatty Liver Disease
Source Database
DisGeNET
Description
The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded according to the nonalcoholic fatty liver disease activity score, and necroinflammation and fibrosis graded and staged according to Ishak in Italian, and to Metavir in Swiss/German patients.
Pubmed
25820484
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.121628651232482
Year of publication
2015
Drugs