Disease: Leigh Disease ×
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566 2000
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation disease UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341 1995