Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 MUTATION
PCSK9 MUTATION - Associated Disease
- Arteriosclerotic cardiovascular disease, NOS
- Source Database
- DisGeNET
- Description
- Gain-of-function mutations in PCSK9 are associated with familial hypercholesterolemia, whereas loss-of-function mutations are protective against ASCVD.
- Pubmed
- 25637042
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs