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GENE - TERM ANNOTATION REPORT

RGD ID: 621539
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ireb2
Name: iron responsive element binding protein 2
Acc ID: DOID:9009167
Term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
Definition: An autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency.
Definition Source(s): OMIM:618451
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)
Ireb2 ISOIREB2 (Homo sapiens)7240710OMIM  
Ireb2 ISOIREB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemiaPMID:25741868 PMID:25741905 PMID:28492532 PMID:30915432 PMID:31243445
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