organic acidemia Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores
Category	disease or phenotype associations
Type	disease
Description	An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (Human Disease Ontology, DOID_0060159)
Similar Terms
Downloads & Tools

Genes

12 genes involed in the disease organic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol	Name
BCKDHA	branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB	branched chain keto acid dehydrogenase E1, beta polypeptide
DBT	dihydrolipoamide branched chain transacylase E2
HGD	homogentisate 1,2-dioxygenase
IVD	isovaleryl-CoA dehydrogenase
MCEE	methylmalonyl CoA epimerase
MMAA	methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB	methylmalonic aciduria (cobalamin deficiency) cblB type
MMADHC	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MUT	methylmalonyl CoA mutase
PCCA	propionyl CoA carboxylase, alpha polypeptide
PCCB	propionyl CoA carboxylase, beta polypeptide