Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
0.300 GermlineCausalMutation disease ORPHANET Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. 14520659 2003
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
0.300 GermlineCausalMutation disease ORPHANET Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002