Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Asp374Asn (p.D374N)
(
ENST00000302118.5,
ENST00000673903.1,
ENST00000710286.1,
ENST00000713786.1 )
PCSK9 p.Asp374Tyr (p.D374Y) ( ENST00000713786.1, ENST00000673903.1, ENST00000710286.1, ENST00000302118.5 )
PCSK9 p.Asp374Asn (p.D374N) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Asp374Tyr (p.D374Y) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- arteriosclerosis
- Source Database
- DisGeNET
- Description
- To produce transgenic mice expressing the D374Y variant of the human proprotein convertase subtilisin/kexin type 9 (PCSK9) gene at physiological levels to investigate the mechanisms causing hypercholesterolemia and accelerated atherosclerosis.
- Pubmed
- 20448210
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00380018620912425
- Year of publication
- 2010
Drugs