decreased activity of cytochrome c oxidase in muscle tissue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. (Human Phenotype Ontology, HP_0003688)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003688
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Genes

15 genes associated with the decreased activity of cytochrome c oxidase in muscle tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C10ORF2 chromosome 10 open reading frame 2
COA5 cytochrome c oxidase assembly factor 5
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
ETHE1 ethylmalonic encephalopathy 1
FASTKD2 FAST kinase domains 2
PET100 PET100 homolog (S. cerevisiae)
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PUS1 pseudouridylate synthase 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TYMP thymidine phosphorylase