ATP5F1E, ATP synthase F1 subunit epsilon, 514

N. diseases: 37; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 Biomarker disease GENOMICS_ENGLAND Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model. 25954304 2015
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 GeneticVariation disease UNIPROT Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 CausalMutation disease CLINVAR
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.700 Biomarker disease CTD_human
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010
CUI: C0016325
Disease: Fluoride Poisoning
Fluoride Poisoning 		0.200 Biomarker disease RGD PFOS prenatal exposure induce mitochondrial injury and gene expression change in hearts of weaned SD rats. 21251948 2011
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation phenotype BEFREE Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. 29350304 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation phenotype BEFREE We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. 17209980 2007
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		0.100 Biomarker phenotype HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome. 19349200 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. 17209980 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli. 15176724 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. 11731285 2002
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE 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 		0.070 GeneticVariation disease BEFREE A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. 8190310 1994
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.070 GeneticVariation disease BEFREE A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.020 Biomarker disease BEFREE Accumulating autofluorescent lysosomal storage material in CLN3 disease, consisting of dolichols, lipids, biometals, and a protein that normally resides in the mitochondria, subunit c of the mitochondrial ATPase, provides evidence that autophagosomal-lysosomal turnover of cellular components is disrupted upon loss of CLN3 protein function. 31783699 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE This case adds to the growing literature of mitochondrial disorders caused by mitochondrial ATPase 6 mutations. 26053701 2015