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GENE - TERM ANNOTATION REPORT

RGD ID: 736556
Species: Homo sapiens
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 IAGP 731230RGDDNA:mutations:multiple (human) 
PDHA1 IAGP 13207453RGDDNA:mutations: :multiple 
PDHA1 ISOPdha1 (Rattus norvegicus)13207454RGD  
PDHA1 IAGP 7240710OMIM  
PDHA1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:2378353
PDHA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:25741868 PMID:28492532
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:10679936 PMID:1301207 PMID:15384102 PMID:15473177 PMID:20002125 PMID:25590979 PMID:25741868 PMID:28492532 PMID:7887409
PDHA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:25741868
PDHA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:28492532
PDHA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency 
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:20002125 PMID:20002461 PMID:24718837 PMID:25741868 PMID:28492532 PMID:28639102 PMID:8962591
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:20002461 PMID:21914562 PMID:28492532
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:10679936 PMID:23021068 PMID:25741868 PMID:28492532 PMID:28918066 PMID:32445240
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:21914562
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:20691944 PMID:28492532
PDHA1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:26467025
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:10679936 PMID:1338114 PMID:1779625 PMID:1909778 PMID:20002461 PMID:21846590 PMID:21914562 PMID:23021068 PMID:24718837 PMID:25741868 PMID:26865159 PMID:28492532 PMID:29756269 PMID:7981697 PMID:8504309
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiencyPMID:1293379 PMID:20002461 PMID:21846590 PMID:25495354 PMID:25741868 PMID:26865159 PMID:28492532 PMID:3034892 PMID:9671272
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:23871722 PMID:25741868 PMID:28492532 PMID:7692352 PMID:8032855 PMID:8598634
PDHA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyPMID:26467025 PMID:28492532
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