|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. (Human Phenotype Ontology, HP_0011925)|
|Downloads & Tools|
1 genes associated with the decreased activity of mitochondrial atp synthase complex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
|ATP5E||ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit|