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GENE - TERM ANNOTATION REPORT

RGD ID: 3272
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pcsk1
Name: proprotein convertase subtilisin/kexin type 1
Acc ID: DOID:9970
Term: obesity
Definition: An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Obesity "DO" "DO"
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)
Pcsk1 ISOPCSK1 (Homo sapiens)1357925RGD  
Pcsk1 ISOPCSK1 (Homo sapiens)1601274RGDDNA:missense mutation:cds: p.G483R (human) 
Pcsk1 ISOPCSK1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18604207
Pcsk1 ISOPCSK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Monogenic Non-Syndromic ObesityPMID:25741868 PMID:28492532
Pcsk1 ISSPcsk1 (Mus musculus)13592920MouseDOOMIM:601665 
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