Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation BEFREE Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. 29350304

2018
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation 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
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker HPO