Alcoholic Intoxication, Chronic
0.320
Biomarker
disease
PSYGENET
In addition, we also detected a plausible protective gene CNTNAP2 , whose 97 rare variants can reduce the risk of alcoholism in women, with an OR of 0.55.
25041903
2014
Auditory Processing Disorder, Central
0.300
Biomarker
disease
CTD_human
CNTNAP2 variants affect early language development in the general population.
21310003
2011
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
Auditory Processing Disorder, Central
0.300
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:
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:
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
Autism Spectrum Disorders
0.700
Biomarker
disease
CTD_human
These data demonstrate a functional role for CNTNAP2 in brain development and provide a new tool for mechanistic and therapeutic research in ASD .
21962519
2011
Autism Spectrum Disorders
0.700
Biomarker
disease
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
Autism Spectrum Disorders
0.700
Biomarker
disease
CTD_human
Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2.
20176116
2010
Autism Spectrum Disorders
0.700
Biomarker
disease
CTD_human
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
21572417
2011
Autistic Disorder
0.500
Biomarker
disease
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663
2008
Autistic Disorder
0.500
Biomarker
disease
CTD_human
We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2 ), a member of the neurexin superfamily, that is significantly associated with autism susceptibility.
18179894
2008
Autistic Disorder
0.500
Biomarker
disease
CTD_human
We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors.
21310003
2011
Autistic Disorder
0.500
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
Awakening Epilepsy
0.300
Biomarker
disease
CTD_human
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
21962519
2011
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
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
Cortical dysplasia with focal epilepsy syndrome
0.810
GermlineCausalMutation
disease
ORPHANET
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
16571880
2006
Cortical dysplasia with focal epilepsy syndrome
0.810
Biomarker
disease
CTD_human
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
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
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
Epilepsy, Cryptogenic
0.300
Biomarker
disease
CTD_human
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
21962519
2011
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
Hyperkinesia
0.310
Biomarker
phenotype
CTD_human
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
21962519
2011