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GENE - TERM ANNOTATION REPORT

RGD ID: 1552230
Species: Mus musculus
RGD Object: Gene
Symbol: Pcsk5
Name: proprotein convertase subtilisin/kexin type 5
Acc ID: DOID:14679
Term: VACTERL association
Definition: A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/VACTERL_association "DO" "DO", http://ghr.nlm.nih.gov/condition/vacterl-association "DO" "DO", http://www.cincinnatichildrens.org/health/v/vacterl/ "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)
Pcsk5 IAGP 11556208RGDDNA:mutation:exon:p.C470R(mouse) 
Pcsk5 ISOPCSK5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18519639
Pcsk5 IAGP 13592920MouseDOOMIM:192350 | OMIM:276950 
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