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GENE - TERM ANNOTATION REPORT

RGD ID: 1359477
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mocs2
Name: molybdenum cofactor synthesis 2
Acc ID: DOID:0111164
Term: molybdenum cofactor deficiency type A
Definition: A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9731530 "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)
Mocs2 ISOMOCS2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group APMID:11746050 PMID:21031595 PMID:28492532
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