ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 GeneticVariation group BEFREE The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS). 31500933 2020
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 GeneticVariation group BEFREE Mutations in the ATP6 gene of mtDNA (mitochondrial DNA) have been shown to cause several different neurological disorders. 16402916 2006