CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 CausalMutation disease CLINVAR Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 21827697 2011
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 CausalMutation disease CLINVAR Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 GermlineCausalMutation disease ORPHANET Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 Biomarker disease GENOMICS_ENGLAND Possible case of Pitt-Hopkins syndrome in sibs. 11568923 2001
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 Biomarker disease CTD_human
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease BEFREE CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features. 30586385 2018
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 GermlineCausalMutation disease ORPHANET Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease GENOMICS_ENGLAND Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease CTD_human
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE The loss of CNTNAP2 function leads to autism spectrum disorder in humans and to autistic behaviours in mice. 31653345 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE We show a paternally inherited miR-873-5p variant with altered binding affinity for several risk-genes including NRXN2 and CNTNAP2 putatively overlay maternally inherited loss-of-function coding variations in NRXN1 and CNTNAP2 to likely increase the genetic liability in an idiopathic ASD case. 29703944 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE Mice deficient in Cntnap2 (Cntnap2-/- mice) show core ASD-like phenotypes, and have been demonstrated as a validated model for ASD-relevant drug discovery. 30816216 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. 30681286 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease BEFREE Loss-of-function mutations in CNTNAP2 cause a syndromic form of autism spectrum disorder in humans and produce social deficits, repetitive behaviors, and seizures in mice. 31141683 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease BEFREE In this review, we provide a summary of animal and cellular models for three genes linked to ADHD and ASD in human patients - CNTNAP2, ADGRL3, and PARK2. 30376466 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease BEFREE Loss of one Cntnap2 allele is sufficient to elicit axonal growth alteration, revealing a situation that may be relevant for CNTNAP2 heterozygosity in ASD patients. 29788201 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease BEFREE Human autoantibodies to contactin-associated protein-like 2 (CASPR2) are often associated with neuropathic pain, and CASPR2 mutations have been linked to autism spectrum disorders, in which sensory dysfunction is increasingly recognized. 29429934 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 AlteredExpression disease BEFREE Considering that Cntnap2 shows high expression levels in the striatum during human and mouse embryonic development and that the cortico-striato-thalamic circuitry is important for speech and language development, alterations in striatal PV expression and associated (homeostatic) adaptations are likely to play an important role in <i>Cntnap2-/-</i> mice and, assumingly, in human ASD patients with known Cntnap2 mutations. 30116174 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 GeneticVariation disease BEFREE We also tested the effects of 4 human CNTNAP2 ASD missense mutations in vivo, and found that they impaired PV+ CIN development. 29028946 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE Employing yeast two-hybrid screening, biochemical analysis, in situ proximity ligation assay (PLA), SIM, and phenotype rescue, we show that these effects are mediated at the membrane by the interaction of CNTNAP2's C-terminus with calcium/calmodulin-dependent serine protein kinase (CASK), another ASD/ID risk gene. 29610457 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease BEFREE Contactin-associated protein-like 2 (<i>CNTNAP2</i>) is an ASD-associated gene, and while <i>Cntnap2</i> knockout (KO) mice recapitulate many of the features of ASD, the effect on cortical circuitry is poorly understood. 28115996 2017