Annotation Detail

Information
Associated Genes
APOC3
Associated Variants
APOC3 MUTATION
APOC3 MUTATION
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
Furthermore, identification of rare loss-of-function variants in genes such as PCSK9, NPC1L1, APOC3 and APOA5, which cause a markedly decreased risk of CHD and no adverse side effects, illustrates the power of translating genetic findings into novel mechanistic information and provides some optimism for the future of developing novel drugs, given the many genes associated with CHD in GWASs.
Pubmed
26477595
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,CLINVAR,GAD,LHGDN
DisGENET score for the Gene Disease association
0.143798465307872
Drugs