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 CausalMutation CLINVAR Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. 16023078 2005
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. 14764913 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003