ATP5F1E, ATP synthase F1 subunit epsilon, 514

N. diseases: 37; N. variants: 1
Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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