Disease: Leigh Disease ×
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
0.800 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390 2007
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263 1998
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461 1998
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604 1997
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753 1996
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530 1992
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 1550128 1992
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.800 CausalMutation CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990