ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28358887
rs28358887
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE For discovery, nominal association with obesity was found for the frequent allele G of m.8994G/A (rs28358887, p = 0.002) located in ATP6. 24788344 2014
dbSNP: rs201336180
rs201336180
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.010 GeneticVariation BEFREE Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. 19026397 2008
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0029463
Disease:
Osteosarcoma 		0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738 2007
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0162671
Disease:
MELAS Syndrome 		0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738 2007
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0585442
Disease:
Osteosarcoma of bone 		0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738 2007
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1332986
Disease:
Childhood Osteosarcoma 		0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738 2007
dbSNP: rs201336180
rs201336180
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE A mtSNP, 8684C > T (T53I) in the mitochondrial ATP synthase subunit 6 gene (ATP6), was detected in 5 of the 96 patients with type-2 diabetes, whereas this substitution was not detected in any of the 96 young obese adults. 16060290 2005
dbSNP: rs794726857
rs794726857
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. 29350304 2018
dbSNP: rs1057516062
rs1057516062
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C3887709
Disease:
Optic Neuropathy 		C 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
dbSNP: rs1057516064
rs1057516064
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0424605
Disease:
Developmental delay (disorder) 		A 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
dbSNP: rs1057516064
rs1057516064
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C1852373
Disease:
Mitochondrial encephalopathy 		A 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
dbSNP: rs1057516064
rs1057516064
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0014544
Disease:
Epilepsy 		A 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0004134
Disease:
Ataxia 		G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs387906422
rs387906422
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C1708371
Disease:
Histiocytoid Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. 26803244 2016
dbSNP: rs794726857
rs794726857
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy. 27812026 2016
dbSNP: rs794726857
rs794726857
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. 25037980 2014
dbSNP: rs1556423547
rs1556423547
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886 2013
dbSNP: rs199476136
rs199476136
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 GeneticVariation CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802 2013
dbSNP: rs199476136
rs199476136
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 GeneticVariation CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932 2013
dbSNP: rs199476136
rs199476136
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 GeneticVariation CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810 2013
dbSNP: rs587776444
rs587776444
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 23266623 2013
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		C 0.700 CausalMutation CLINVAR Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 22933740 2012
dbSNP: rs587776437
rs587776437
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. 20525945 2011
dbSNP: rs1569484151
rs1569484151
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 20722495 2010
dbSNP: rs387906419
rs387906419
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630 2010