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
- Hypercholesterolemia
- Source Database
- DisGeNET
- Description
- Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response.
- Pubmed
- 16224054
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162405859306164
- Year of publication
- 2005
Drugs