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: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Randomized Placebo-Controlled Trial of Intravenous Immunoglobulin in Autoimmune LGI1/CASPR2 Epilepsy. 31782181 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Homozygous mutations in contactin associated protein-like 2 (CNTNAP2), a neurexin-related cell-adhesion protein, are strongly linked to autism and epilepsy. 28184409 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 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: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE CNTNAP2 mutations and autosomal dominant epilepsy with auditory features. 29179159 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE By identifying novel homozygous or compound heterozygous, deleterious CNVs and mutations in eight individuals from six unrelated families with moderate-to-severe ID, early onset epilepsy and behavioural anomalies, we considerably broaden the mutational and clinical spectrum associated with bi-allelic aberrations in CNTNAP2. 27439707 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 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: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE CNTN2 knockout mice were previously reported to suffer from spontaneous seizures and mutations in the CNTNAP2 gene have been described to cause epilepsy in humans. 23518707 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. 21962519 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease CTD_human Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. 21962519 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children. 19302947 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment. 17646849 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease LHGDN Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment. 17646849 2008