Annotation Detail

Information
Associated Genes
TM6SF2
Associated Variants
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 )
Associated Disease
Steatohepatitis
Source Database
DisGeNET
Description
The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant increases liver fat and risk of progressive steatohepatitis by interfering with lipoprotein secretion.
Pubmed
25820484
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs