CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Awakening Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010