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GENE - TERM ANNOTATION REPORT

RGD ID: 1605768
Species: Homo sapiens
RGD Object: Gene
Symbol: FAM47C
Name: family with sequence similarity 47 member C
Acc ID: DOID:9271
Term: ornithine carbamoyltransferase deficiency
Definition: An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency "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)
FAM47C IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiencyPMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532
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