abnormality of branched chain family amino acid metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of a branched chain family amino acid metabolic process. (Human Phenotype Ontology, HP_0010892)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010892
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Genes

7 genes associated with the abnormality of branched chain family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCKDK branched chain ketoacid dehydrogenase kinase
DBT dihydrolipoamide branched chain transacylase E2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase