CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability. 30843029 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Contactin associated protein-like 2 (CNTNAP2) is the first widely replicated autism-predisposition gene. 30816216 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Reduced Prefrontal Synaptic Connectivity and Disturbed Oscillatory Population Dynamics in the CNTNAP2 Model of Autism. 31141683 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. 30681286 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE In mice lacking the autism-associated gene Cntnap2, both the categorization of sensory stimuli and the refinement of social representations were impaired. 31768051 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE These findings reveal a key contribution of ASD-associated gene CNTNAP2 in modulating macroscale functional connectivity, and suggest that homozygous loss-of-function mutations in this gene may predispose to neurodevelopmental disorders and autism through a selective dysregulation of connectivity in integrative prefrontal areas. 28184409 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Disrupting CNTNAP2 rare variant burden was not higher in autism or schizophrenia compared to controls. 30586385 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Consistent with this result, mutations in the CNTNAP2 gene coding for CASPR2 in human have been identified in neurodevelopmental disorders such as autism, intellectual disability, and epilepsy. 30028556 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE The CNTNAP2 (contactin-associated protein-like 2) gene, highly expressed in the human prefrontal cortex, has been linked with autism and language impairment. 27916731 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Here, we asked whether an autism risk-associated CNTNAP2 single nucleotide polymorphism in neurotypical adults was associated with multisensory speech perception performance, and whether such a genotype-phenotype association was mediated through white matter tract integrity in speech-language circuitry. 28738218 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism. 28572274 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE In this study the association of rs7794745 CNTNAP2 gene polymorphism and autism was investigated. 28284582 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE We aimed to elucidate the genetic association of CNTNAP2 within high functioning ASD (HFA), focusing on autism specific symptoms and reducing intelligence related factors. 26559825 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment. 26843181 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Common genomic variants of CNTNAP2 have been associated with autism, and a range of autistic phenotypes such as impaired language function, abnormal social behavior, intellectual deficiency, epilepsy, and schizophrenia have been associated with this gene. 26909962 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism. 25918374 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. 25621974 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Finally, we tested the expression of nine putative autism candidate genes in hair follicles and found decreased CNTNAP2 expression in the autism cohort. 25444170 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. 26273832 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE CNTNAP2 has been suggested to play an important role in mental diseases such as autism and language disorder. 23123147 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE CNTNAP2 is a gene on chromosome 7 that has shown associations with autism and schizophrenia, and there is evidence that it plays an important role for neuronal synchronization and brain connectivity. 23871450 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. 23277129 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Consequently, this study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited. 24147096 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Mutations in the contactin-associated protein 2 (CNTNAP2) gene encoding CASPR2, a neurexin-related cell-adhesion molecule, predispose to autism, but the function of CASPR2 in neural circuit assembly remains largely unknown. 23074245 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012