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GENE - TERM ANNOTATION REPORT

RGD ID: 620555
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mt-nd1
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Acc ID: DOID:9007527
Term: Mitochondrial Myopathy, Infantile, Transient
Definition: Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis.
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)
Mt-nd1 ISOMT-ND1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENTPMID:25741868
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