Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 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
0.460 GeneticVariation disease BEFREE A frame-shift mutation that causes a form of syndromic epilepsy (CASPR2-1253*), results in a secreted protein with seemingly normal folding and oligomerization. 22872700 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 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
0.460 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
0.460 Biomarker disease CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 GeneticVariation disease BEFREE Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 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
0.460 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
0.460 GeneticVariation disease LHGDN This study reports genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. 17646849 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 GeneticVariation disease BEFREE CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. 17646849 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.460 Biomarker disease HPO