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GENE - TERM ANNOTATION REPORT

RGD ID: 1321106
Species: Homo sapiens
RGD Object: Gene
Symbol: COX10
Name: cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Acc ID: DOID:3762
Term: cytochrome-c oxidase deficiency disease
Definition: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders "DO" "DO", https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26846578 "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)
COX10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
COX10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:25741868
COX10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:25741868 PMID:28492532
COX10 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:28492532
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:23814038 PMID:25741868 PMID:28492532
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cytochrome-c oxidase deficiency diseasePMID:25741868 PMID:28492532 PMID:32313153
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Complex IV deficiencyPMID:12928484 PMID:22669974 PMID:24100867 PMID:25741868 PMID:28492532 PMID:32313153
COX10 ISSCox10 (Mus musculus)13592920MouseDOOMIM:220110 
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