ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530 1992
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837 1995
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753 1996
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461 1998
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. 11245730 2001
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. 11382202 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. 11731285 2002
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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