Pyruvate dehydrogenase phosphatase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. (Orphanet Rare Disease Ontology, Orphanet_79246)
External Link http://www.omim.org/entry/608782
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Genes

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

Symbol Name
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1