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GENE - TERM ANNOTATION REPORT

RGD ID: 628740
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aptx
Name: aprataxin
Acc ID: DOID:0070238
Term: primary coenzyme Q10 deficiency 1
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19375058 "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)
Aptx ISOAPTX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 
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