Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 MUTATION
PCSK9 MUTATION - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- It is an autosomal dominant disease, caused by variants in Ldlr, ApoB or Pcsk9, which results in high levels of LDL-cholesterol (LDL-C) leading to early coronary heart disease.
- Pubmed
- 25839937
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0251457431466092
Drugs