abnormality of pyruvate family amino acid metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of a pyruvate family amino acid metabolic process. (Human Phenotype Ontology, HP_0010915)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010915
Similar Terms
Downloads & Tools


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

Symbol Name
CA5A carbonic anhydrase VA, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
MRPL3 mitochondrial ribosomal protein L3
MTO1 mitochondrial tRNA translation optimization 1
PC pyruvate carboxylase
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
TMEM70 transmembrane protein 70