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: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.650 GeneticVariation disease UNIPROT A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. 7726182 1995
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.650 Biomarker disease HPO
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.650 Biomarker disease CTD_human
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GeneticVariation disease BEFREE The m.8993T>G mutation of the mitochondrial MT-ATP6 gene has been associated with numerous cases of neuropathy, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh Syndrome (MILS), which are diseases known to result from abnormalities affecting mitochondrial energy production. 31276579 2019
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GeneticVariation disease BEFREE A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. 30414414 2019
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 Biomarker disease CTD_human Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation. 27129022 2016
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GeneticVariation disease BEFREE Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS). 19875463 2010
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GermlineCausalMutation disease ORPHANET The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene. 19433277 2009
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GeneticVariation disease BEFREE The molecular pathogenic mechanism of the human mitochondrial diseases neurogenic ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome was determined in cultured human cells harboring homoplasmic T8993G/T8993C point mutations in the mitochondrial ATP6 gene, which encodes subunit 6 of the F1F0-ATP synthase. 17121862 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease 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: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease BEFREE MT-ATP6 is associated with some cases of Leigh disease; clinical outcomes in our cohort ranged from death from neurodegenerative disease in early childhood to clinically and developmentally normal after several years of follow-up. 29307858 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene. 29929013 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE The result of mutational analysis revealed the absence of mitochondrial mutations in MT-ATP6 gene and the presence of a known homozygous splice site mutation c.516-517delAG in sibling patients added to the presence of a novel double het mutations in LS patient (c.752-18 A > C/c. c.751 + 16G > A). 29481804 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 Biomarker disease BEFREE Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. 30140060 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. 29602698 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? 29116603 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease. 27502083 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6 (referred to as Atp6p in yeast) are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia. 24316278 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation. 24153443 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 23266623 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease BEFREE The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). 23266623 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation disease CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 CausalMutation disease CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886 2013