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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.010 Biomarker phenotype BEFREE Three mitochondrial genes, MT-ND5, MT-ND6, and MT-ATP6 were found negatively associated with IUGR, while one glycolysis-regulatory gene, PDK1 was positively associated with IUGR. mtDNA abundance and OS were positively associated with IUGR. 30251570 2020
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.010 GeneticVariation disease BEFREE In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic acidemias and multiple carboxylase deficiencies were excluded. 29307858 2019
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 Biomarker disease BEFREE This study was conducted to assess clinical significance of expression of mitochondrial-encoded genes, namely ND3, SDHB, Cytochrome b, Cytochrome C, and ATP6, in pediatric AML. 31119613 2019
CUI: C0268581
Disease: Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency 		0.010 GeneticVariation disease BEFREE In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic acidemias and multiple carboxylase deficiencies were excluded. 29307858 2019
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.010 GeneticVariation disease BEFREE The frequency of A10398G of MT-ND3, A8701G of MT-ATP6 and C14766T of MT-CYB genes were significantly higher in HAPE susceptibles. mtDNA copy number also plays a significant synergistic role in HAPE susceptibility. 31358833 2019
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.010 GeneticVariation disease BEFREE Five of them harbored mtDNA deletions associated with Kearns-Sayre syndrome (KSS), one had a mitochondrial point mutation at the mtDNA ATPase6 gene, and one had a POLG mutation. 29974349 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation group BEFREE We previously identified a mutation in the mitochondrial MT-ATP6 gene (m.8969G>A) in a 14-year-old Chinese female who developed an isolated nephropathy followed by brain and muscle problems. 29778688 2018
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE Missense or nonsense mtDNA mutations were detected in the genes encoding subunits of OXPHOS complexes, as follows: MT-ND1, MT-ND2, MT-ND4L and MT-ND6 of complex I; MT-CO3 of complex IV; and MT-ATP6 and MT-ATP8 of complex V. We discovered mtDNA mutations in childhood ALL supporting the hypothesis that non-neutral variants in mtDNA affecting the OXPHOS function may be related to leukemic clones. 28708239 2018
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.010 GeneticVariation phenotype BEFREE Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. 30425197 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 GeneticVariation disease BEFREE For example, the gene ATP6 V1G1, which has been implicated in osteoporosis, correlated with metabolites that are dysregulated by inhaled corticoid steroids (ICS), providing insight into the mechanisms underlying bone density loss in asthma patients taking ICS. 30335973 2018
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders 		0.010 GeneticVariation group BEFREE Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. 30425197 2018
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.010 GeneticVariation group BEFREE Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. 30425197 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 GeneticVariation disease BEFREE The mtDNA variations were mainly distributed in regions of ATP6 binding sites, and the site of highest mutation frequency was m. 8414C > T. Three changes in single bases (C8414T in ATP8, A8701G in ATP6 and G8584A in ATP6) were significantly different in the MIEH patients and the controls (P < 0.001). 30326913 2018
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 GeneticVariation disease BEFREE Five of them harbored mtDNA deletions associated with Kearns-Sayre syndrome (KSS), one had a mitochondrial point mutation at the mtDNA ATPase6 gene, and one had a POLG mutation. 29974349 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE Comprehensive ranking indicated RPS17 with MT-ATP6 as the best ICGs for qPCR in PBMCs of control and ALS subjects, and RPS17 with 18RNA or MT-ATP6 in LCLs from ALS. 28328930 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 Biomarker disease BEFREE But in the hepatocytes and skeletal muscle cells, the mitochondrial number decreased; 2.The mt-DNA encoded protein cytochrome b increased significantly in heart but decreased in liver and the ATPase6 increased in liver but decreased in heart of the MS rats; 3. 28957804 2017
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.010 GeneticVariation disease BEFREE Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. 29054413 2017
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		0.010 GeneticVariation disease BEFREE The second patient with isolated mitochondrial cardiomyopathy presented the m.8605C>T (p.27P>S) mutation in the MT-ATP6 gene. 28104394 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. 28412374 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 GeneticVariation disease BEFREE Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy. 27812026 2016
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.010 GeneticVariation disease BEFREE We suggest that the m.8561C>G mutation in MT-ATP6/8 is pathogenic, leads biochemically to impaired assembly and decreased ATP production of complex V, and results clinically in a phenotype with the core features of cerebellar ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. 27502083 2016
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		0.010 GeneticVariation disease BEFREE We investigated if Mexican-Mestizo men presenting this type of cancer, exhibited somatic mutations of ATP6 and/or ND3.Body mass index (BMI) was determined; the degree of prostate cancer aggressiveness was demarcated by the Gleason score. 27187822 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 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: C4237343
Disease: Overweight or obesity
Overweight or obesity 		0.010 GeneticVariation phenotype BEFREE Genetic variants in ATP6 and ND3 mitochondrial genes are not associated with aggressive prostate cancer in Mexican-Mestizo men with overweight or obesity. 27187822 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group BEFREE Overall, we screened 121 adenomas and seven adenocarcinomas and their corresponding germinal controls, for mitochondrial genes with a crucial role in oxidative phosphorylation and translation (MT-CO1, MT-CO2, MT-CO3, MT-TD, MT-TS1, MT-ATP6) as well as a hypervariable sequence (HV-II) within the control region displacement loop (D-loop), a marker of hypermutability and clonal expansion. 26138249 2015