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GENE - TERM ANNOTATION REPORT

RGD ID: 13861039
Species: Sus scrofa
RGD Object: Gene
Symbol: PCSK9
Name: proprotein convertase subtilisin/kexin type 9
Acc ID: DOID:9000528
Term: Coronary Disease
Definition: An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Definition Source(s): MESH:D003327
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PCSK9susceptibilityISOPCSK9 (Homo sapiens)9068941RGDDNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human)PMID:16554528 REF_RGD_ID:1581000
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