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GENE - TERM ANNOTATION REPORT

RGD ID: 18912317
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Slc19a3
Name: solute carrier family 19 member 3
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)
Slc19a3 ISOLOC486151 (Canis lupus familiaris)9068941OMIANecrotising encephalopathy, subacute, of LeighPMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 PMID:25117056 PMID:33081289 PMID:34544496 PMID:8844603
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