Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome
0.020 GeneticVariation disease BEFREE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers. 15767514 2005
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome
0.020 GeneticVariation disease BEFREE A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552 2003