ATP5F1E, ATP synthase F1 subunit epsilon, 514

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