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GENE - TERM ANNOTATION REPORT

RGD ID: 1307109
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndufs2
Name: NADH:ubiquinone oxidoreductase core subunit S2
Acc ID: DOID:0112066
Term: nuclear type mitochondrial complex I deficiency 6
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the NDUFS2 gene on chromosome 1q23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11220739/ "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)
Ndufs2 ISONDUFS2 (Homo sapiens)7240710OMIM  
Ndufs2 ISONDUFS2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6PMID:11220739 PMID:17576681 PMID:20818383 PMID:20819849 PMID:22200994 PMID:25741868 PMID:25741916 PMID:28031252 PMID:28492532 PMID:31411514 PMID:9536098
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