Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=MESH:C565447
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PDHX pyruvate dehydrogenase complex, component X 2.88009