ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Striatonigral Degeneration, Infantile, Mitochondrial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		0.400 CausalMutation disease CLINVAR
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		0.400 GeneticVariation disease UNIPROT A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837 1995