|Dataset||DISEASES Curated Gene-Disease Assocation Evidence Scores|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
5 genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.