Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. (Orphanet Rare Disease Ontology, Orphanet_255182)
External Link http://www.omim.org/entry/245349
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Genes

1 genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PDHX pyruvate dehydrogenase complex, component X