CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Selective Mutism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236818
Disease: Selective Mutism
Selective Mutism 		0.020 AlteredExpression phenotype BEFREE Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). 23277129 2013
CUI: C0236818
Disease: Selective Mutism
Selective Mutism 		0.020 Biomarker phenotype BEFREE These findings suggest a partially shared etiology between ASDs and SM and raise questions about which aspects of these syndromes are potentially influenced by CNTNAP2 and mechanism(s) by which these influences may be conveyed. 21193173 2011