Annotation Detail
Information
- Associated Genes
- LPL
- Associated Variants
-
PON2 p.Ser311Cys (p.S311C)
(
ENST00000222572.8,
ENST00000433091.6,
ENST00000633192.1,
ENST00000633531.1 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 ) - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen activator inhibitor-1 (PAI-1) T11053G, beta-fibrinogen (FGB) -455 G>A and nitric oxide synthase gene (NOS) -922 A>G polymorphisms in 84 patients with FH.
- Pubmed
- 16776623
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127448482678007
- Year of publication
- 2006
Drugs