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GENE - TERM ANNOTATION REPORT

RGD ID: 8721742
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ndufs8
Name: NADH:ubiquinone oxidoreductase core subunit S8
Acc ID: DOID:0112074
Term: nuclear type mitochondrial complex I deficiency 1
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10330338/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/10944442/ "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)
Ndufs8 ISONDUFS8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1PMID:20818383 PMID:24595071 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192
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