Gene: ATP5F1E ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E 		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
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E 		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
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E 		0.120 Biomarker phenotype HPO