Pyruvate dehydrogenase e1-alpha deficiency

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Subtype of: Pyruvate dehydrogenase deficiency
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Pathways column key: KEGG Reactome
Disease terms Disease ID Gene Symbol Classification References Source Pathways
  • pyruvate dehydrogenase E1-alpha deficiency
MONDO_0010717
PDHA1 Causal
1293379 1338114 1551669 1907799 1909401 1909778 2378353 2537010 3137520 7545958 7573035 7757088 7887409 7967473 8032855 8199595 8498846 8504306 8664900 8771169 8844217 9266390 9671272 9686362 10486093 10679936 12379317 14635113 16412675 16713755 17043409 18023225 18197404 18273899 18398624 18709504 19517265 19639391 20002125 20002461 20462777 21470495 23572181 26287337 26865159 27604308 27864847 27896109 29970614 30090160 31673819 32472546 33592356 33661577 35132535 36170095 36225105 36693417 37160702 38497591
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Pyruvate dehydrogenase e1-alpha deficiency.
5 View disease cluster →
Leigh syndrome 1 shared genePDHA1 Related via 1 shared gene including PDHA1. Developmental and epileptic encephalopathy 1 shared genePDHA1 Related via 1 shared gene including PDHA1. Mitochondrial disease 1 shared genePDHA1 Related via 1 shared gene including PDHA1. Stomach neoplasms 1 shared genePDHA1 Related via 1 shared gene including PDHA1. Myocardial ischemia 1 shared genePDHA1 Related via 1 shared gene including PDHA1.