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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:3652
Term: Leigh disease
Definition: A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leigh%27s_disease "DO" "DO", http://ghr.nlm.nih.gov/condition/leigh-syndrome "DO" "DO", https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO" "DO", https://rarediseases.org/rare-diseases/leigh-syndrome/ "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)8554872ClinVarClinVar Annotator: match by term: Leigh syndrome 
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndromePMID: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: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathyPMID:25741868
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)8554872ClinVarClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathyPMID: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: Leigh syndrome | ClinVar Annotator: match by term: Leigh's diseasePMID:28492532
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndromePMID:23814038 PMID:25741868 PMID:28492532
COX10 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh's diseasePMID:23665194 PMID:25741868 PMID:28492532
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