Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy. 17352390

2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263

1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene. 9270604

1997
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993