|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. (Human Disease Ontology, DOID_0060332)|
|Downloads & Tools|
1 genes associated with the ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
|ATP5E||ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit|