CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.310 Biomarker disease CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.310 Biomarker phenotype CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease PSYGENET The third interesting SNP rs802568 was at 7q35 within CNTNAP2 (p=8.92 × 10(-4), 1.38 × 10(-5), and 1.62 × 10(-7) for schizophrenia, bipolar disorder and meta-analysis, respectively). 20889312 2010
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. 21082657 2010
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.310 Biomarker disease CTD_human Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. 21082657 2010
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental 		0.310 Biomarker phenotype CTD_human Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. 21108403 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease CTD_human We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients. 25475535 2015
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.300 Biomarker disease CTD_human Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. 22941189 2012
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype CTD_human Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism. 21310003 2011
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		0.300 Biomarker phenotype CTD_human Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 Biomarker disease CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 Biomarker disease CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype CTD_human Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. 21082657 2010
CUI: C0038131
Disease: Stammering
Stammering 		0.300 Biomarker disease CTD_human Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. 21108403 2010
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010
CUI: C0454542
Disease: Stuttering, Acquired
Stuttering, Acquired 		0.300 Biomarker phenotype CTD_human Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. 21108403 2010
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype CTD_human Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. 21082657 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010