CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE We identified a missense mutation, p.Glu1044Lys, in the <i>CTNND2</i> gene that cosegregated with the FCMTE phenotype. 29127138 2017