Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.110 GeneticVariation phenotype BEFREE Here the authors report the case of juvenile onset refractory epilepsy and progressive myoclonus with compound heterozygous FARS2 mutations. 27095821 2016
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.110 Biomarker phenotype HPO