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GENE - TERM ANNOTATION REPORT

RGD ID: 12108642
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: COQ5
Name: coenzyme Q5, methyltransferase
Acc ID: DOID:0112138
Term: primary coenzyme Q10 deficiency 9
Definition: A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. (DO)
Definition Source(s): PMID:29044765 "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)
COQ5 ISOCOQ5 (Homo sapiens)7240710OMIM  
COQ5 ISOCOQ5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9PMID:25741868 PMID:28492532 PMID:29044765
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