ATP5F1E, ATP synthase F1 subunit epsilon, 514

N. diseases: 37; N. variants: 1
Disease: Isolated ATP synthase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010