Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
0.010 GeneticVariation disease BEFREE Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome. 29258548 2017