Pitt-Hopkins-Like Syndrome 1
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
|
16571880 |
2006 |
Pitt-Hopkins-Like Syndrome 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Possible case of Pitt-Hopkins syndrome in sibs.
|
11568923 |
2001 |
Pitt-Hopkins-Like Syndrome 1
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
GENOMICS_ENGLAND |
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 |
|
|
|
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 |
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
|
21572417 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Unipolar Depression
|
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 |
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 |
Language Development Disorders
|
0.310 |
Biomarker
|
group |
CTD_human |
CNTNAP2 variants affect early language development in the general population.
|
21310003 |
2011 |
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 |
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 |