ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
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 A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. 28412374 2017