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 Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees. 20502985 2010