Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
Striatonigral Degeneration, Infantile, Mitochondrial
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
0.700 CausalMutation CLINVAR