|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.
|PDHX||pyruvate dehydrogenase complex, component X||2.88009|