abnormal activity of mitochondrial respiratory chain Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased or decreased activity of the mitochondrial respiratory chain. (Human Phenotype Ontology, HP_0011922)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011922
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12 genes associated with the abnormal activity of mitochondrial respiratory chain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
BOLA3 bolA family member 3
DGUOK deoxyguanosine kinase
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
GFER growth factor, augmenter of liver regeneration
ISCU iron-sulfur cluster assembly enzyme
NFU1 NFU1 iron-sulfur cluster scaffold
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TK2 thymidine kinase 2, mitochondrial
TSFM Ts translation elongation factor, mitochondrial