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GENE - TERM ANNOTATION REPORT

RGD ID: 1353863
Species: Homo sapiens
RGD Object: Gene
Symbol: DUOX2
Name: dual oxidase 2
Acc ID: DOID:0050712
Term: AGAT deficiency
Definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#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)
DUOX2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiencyPMID:28492532
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