Annotation Detail

Information
Associated Genes
PCSK9
Associated Variants
PCSK9 MUTATION
PCSK9 MUTATION
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
Early findings suggested that rare and low-frequency coding variation might have a large effect on human phenotypes (eg, PCSK9 missense variants on low-density lipoprotein-cholesterol and coronary heart diseases).
Pubmed
25185437
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0251457431466092
Drugs