Pyruvate dehydrogenase phosphatase deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=MESH:C536258
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Genes

1 genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 2.88009