CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Hyperkinesia, Generalized ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		0.300 Biomarker phenotype CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011