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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:3649
Term: pyruvate decarboxylase deficiency
Definition: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency "DO" "DO", http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract "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 IMP 13207454RGD  
Pdha1 ISOPDHA1 (Homo sapiens)731230RGDDNA:mutations:multiple (human) 
Pdha1 ISOPDHA1 (Homo sapiens)13207453RGDDNA:mutations: :multiple 
Pdha1 ISOPDHA1 (Homo sapiens)7240710OMIM  
Pdha1 ISOPDHA1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:2378353
Pdha1 ISOPDHA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:10486093 PMID:10679936 PMID:1293379 PMID:1301207 PMID:1338114 PMID:15384102 PMID:15473177 PMID:1779625 PMID:1909778 PMID:20002125 PMID:20002461 PMID:20691944 PMID:21846590 PMID:21914562 PMID:22142326 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:29756269 PMID:3034892 PMID:31618753 PMID:32445240 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8504309 PMID:8598634 PMID:8962591 PMID:9671272
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