Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (Human Disease Ontology, DOID_3649)
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2 genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 2.88009
PDHB pyruvate dehydrogenase (lipoamide) beta 2.88009