CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832841
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 		0.300 GermlineCausalMutation disease ORPHANET δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138 2017