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GENE - TERM ANNOTATION REPORT

RGD ID: 3286
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pdha1
Name: pyruvate dehydrogenase E1 subunit alpha 1
Acc ID: DOID:700
Term: mitochondrial metabolism disease
Definition: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Mitochondrial_disease "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)
Pdha1 ISOPDHA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormality of the mitochondrionPMID:10679936 PMID:1301207 PMID:15384102 PMID:15473177 PMID:20002125 PMID:25590979 PMID:25741868 PMID:28492532 PMID:7887409
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