Gene: ATP6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 1550128 1992
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530 1992
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease BEFREE Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. 8078883 1994
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease BEFREE We report a new case of Leigh disease (subacute necrotizing encephalomyelopathy) in a girl with mitochondrial DNA (mtDNA) mutation in the ATPase6 gene at nucleotide position 8993. 8750605 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease BEFREE The mutation in the mitochondrial ATP synthase subunit 6 gene (ATP6 T8993G) was identified in a male infant who died at age 15 months of Leigh syndrome. 7649544 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753 1996
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease 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 		0.500 CausalMutation disease CLINVAR 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 		0.500 GeneticVariation disease UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461 1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease BEFREE Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome. 9511882 1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. 9631394 1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 GeneticVariation disease 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 		0.500 GeneticVariation disease BEFREE The first patient with a limb-girdle-type myopathy carried an A3302G substitution in the tRNA(Leu(UUR)) gene (70% heteroplasmy), the second patient with mitochondrial myopathy and cardiomyopathy carried a T3271C mutation in the tRNA(Leu(UUR)) gene (80% heteroplasmy) and the third patient with Leigh syndrome carried a T9176C mutation in the ATPase6 gene (93% heteroplasmy). 11024191 2000
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. 11382202 2000
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. 11119722 2000
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. 11245730 2001
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 CausalMutation disease CLINVAR A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. 11731285 2002
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.500 Biomarker disease BEFREE This gives strong support to the relevance of MTATP6 dysfunction in Leigh syndrome and the importance of leucine at that position. 11731285 2002