muscle abnormality related to mitochondrial dysfunction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003800
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Genes

19 genes associated with the muscle abnormality related to mitochondrial dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGK acylglycerol kinase
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
ISCU iron-sulfur cluster assembly enzyme
PET100 PET100 homolog (S. cerevisiae)
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PUS1 pseudouridylate synthase 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TK2 thymidine kinase 2, mitochondrial
TYMP thymidine phosphorylase