Annotation Detail
Information
- Associated Genes
- TM6SF2
- Associated Variants
-
TM6SF2 p.Glu167Lys (p.E167K)
(
ENST00000389363.5 )
TM6SF2 p.Glu167Lys (p.E167K) ( ENST00000389363.5 ) - Associated Disease
- Fatty Liver
- Source Database
- DisGeNET
- Description
- Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs).
- Pubmed
- 25251399
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs