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GENE - TERM ANNOTATION REPORT

RGD ID: 18935291
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Coq9
Name: coenzyme Q9
Acc ID: DOID:0070242
Term: primary coenzyme Q10 deficiency 5
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (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)
Coq9 ISOCOQ9 (Homo sapiens)7240710OMIM  
Coq9 ISOCOQ9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromePMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 PMID:23255162 PMID:25741868 PMID:25802402 PMID:26081641 PMID:27629047 PMID:28492532 PMID:28736527 PMID:29255295 PMID:30482867
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