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GENE - TERM ANNOTATION REPORT

RGD ID: 1307307
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndufa9
Name: NADH:ubiquinone oxidoreductase subunit A9
Acc ID: DOID:0112086
Term: nuclear type mitochondrial complex I deficiency 26
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22114105/ "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)
Ndufa9 ISONDUFA9 (Homo sapiens)7240710OMIM  
Ndufa9 ISONDUFA9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related conditionPMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271
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