Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
0.010 GeneticVariation disease BEFREE Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. 25401298 2015