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 		0.030 GeneticVariation disease BEFREE Mutations in the SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy, and Leigh syndrome. 31614134 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.030 GeneticVariation disease BEFREE Mutations in SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy and Leigh syndrome. 29604258 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.030 GeneticVariation disease BEFREE We uncovered a homozygous missense mutation in SLC25A46, the mammalian orthologue of Ugo1, in a subject with Leigh syndrome. 27390132 2016