Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
PCSK9 p.Arg46Leu (p.R46L)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- 1130 unrelated subjects with molecularly defined FH were screened for mutation R46L in the PCSK9 gene and cell culture experiments were performed to study the effect of high concentrations of low density lipoprotein (LDL) on the binding of PCSK9 to the LDL receptor (LDLR).
- Pubmed
- 19917273
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.462660055576745
- Year of publication
- 2010
Drugs