Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
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
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
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
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.700 GeneticVariation disease UNIPROT Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.700 CausalMutation disease CLINVAR
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.700 Biomarker disease CTD_human