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GENE - TERM ANNOTATION REPORT

RGD ID: 12113173
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: NDUFAF2
Name: NADH:ubiquinone oxidoreductase complex assembly factor 2
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)
NDUFAF2 ISONDUFAF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 PMID:31130284
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