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: 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: 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: 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: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human CNTNAP2 variants affect early language development in the general population. 21310003 2011
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.310 Biomarker group CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 Biomarker disease PSYGENET According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population. 23123147 2013
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: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		0.340 Biomarker disease CTD_human We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome. 19896112 2009
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: 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: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease CTD_human At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. 20157312 2011
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: 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: 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: C0241210
Disease: Speech Delay
Speech Delay 		0.310 Biomarker disease CTD_human Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. 20157312 2011
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: 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: 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: C0038506
Disease: Stuttering
Stuttering 		0.320 Biomarker phenotype CTD_human CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. 21108403 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: C0751527
Disease: Stuttering, Adult
Stuttering, Adult 		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