CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Language Development Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. 21082657 2010
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 GeneticVariation group BEFREE Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. 19896112 2009