CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Disease: Epilepsy ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease CTD_human Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. 21962519 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010