Pyruvate dehydrogenase E3 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 E3 deficiency
MONDO_0009503
DLD Causal — ClinGen
  • pyruvate dehydrogenase E3 deficiency
MONDO_0009503
PDHX Unknown
9399911
Open Targets
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Pyruvate dehydrogenase E3 deficiency.
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Lacticacidemia 1 shared genePDHX Related via 1 shared gene including PDHX. Dihydrolipoamide dehydrogenase deficiency 1 shared geneDLD Related via 1 shared gene including DLD. Maple syrup urine disease 1 shared geneDLD Related via 1 shared gene including DLD. Nasopharyngeal neoplasms 1 shared geneDLD Related via 1 shared gene including DLD. Leigh syndrome 2 shared genesDLD, PDHX Related via 2 shared genes including DLD, PDHX.