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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:0111698
Term: proprotein convertase 1/3 deficiency
Definition: A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14617756 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7477119 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207799 "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)7240710OMIM  
Pcsk1 ISOPCSK1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pcsk1 ISOPCSK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiencyPMID:14617756 PMID:17595246 PMID:22210313 PMID:23383060 PMID:23562752 PMID:24041679 PMID:24135795 PMID:24932808 PMID:25272002 PMID:25741868 PMID:26207343 PMID:26786350 PMID:27187081 PMID:28377240 PMID:28492532 PMID:30383237 PMID:9207799
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