Pyruvate Dehydrogenase E2 Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. (Orphanet Rare Disease Ontology, Orphanet_79244)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C565448
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Genes

1 genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
DLAT dihydrolipoamide S-acetyltransferase 2.88009