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GENE - TERM ANNOTATION REPORT

RGD ID: 1307861
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Exosc5
Name: exosome component 5
Acc ID: DOID:9003258
Term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
Definition: This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations.
Definition Source(s): OMIM:619576
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)
Exosc5 ISOEXOSC5 (Homo sapiens)7240710OMIM  
Exosc5 ISOEXOSC5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defectsPMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229
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