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GENE - TERM ANNOTATION REPORT

RGD ID: 12625473
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: LOC101962609
Name: protein SCO2 homolog, mitochondrial
Acc ID: DOID:0070491
Term: mitochondrial complex IV deficiency nuclear type 1
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10746561/ "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)
LOC101962609 ISOSCO2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 PMID:28492532 PMID:28518168 PMID:32461654
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