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GENE - TERM ANNOTATION REPORT

RGD ID: 10129
Species: Mus musculus
RGD Object: Gene
Symbol: Ak1
Name: adenylate kinase 1
Acc ID: DOID:0070244
Term: primary coenzyme Q10 deficiency 7
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25658047 "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)
Ak1 ISOAK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndromePMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
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