CNTN2, contactin 2, 6900

N. diseases: 99; N. variants: 14
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 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 23518707 2013