|
Abnormal behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in CNTN4 gene have been linked to various psychiatric disorders.
|
28821864 |
2017 |
|
Adrenal Gland Pheochromocytoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas.
|
28938490 |
2018 |
|
Alcoholic Intoxication, Chronic
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Bipolar disorder with alcohol dependence and other co-morbidities was associated with SNP rs2727943 (p = 3.3×10⁻⁸) on chromosome 3p26.3 located between the genes contactin-4 precursor (BIG-2) and contactin 6 (CNTN6).
|
22205951 |
2011 |
|
Alcoholic Intoxication, Chronic
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Bipolar disorder with alcohol dependence and other co-morbidities was associated with SNP rs2727943 (p = 3.3×10⁻⁸) on chromosome 3p26.3 located between the genes contactin-4 precursor (BIG-2) and contactin 6 (CNTN6).
|
22205951 |
2011 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The results revealed that 8 novel loci of 1p34.3, 3p21.1, 3p22.2, 10p15.2, 22q12.1, 3q13.11, 11q25, 12q24.33, and 5 previously reported loci of CNTN4 (kgp11325216), ATXN1 (kgp8327591), C9orf72 (kgp6016770), ITPR2 (kgp3041552), and SOD1 (kgp10760302) were associated with sALS from CHP.
|
24529757 |
2014 |
|
Anorexia Nervosa
|
0.020 |
Biomarker
|
disease |
BEFREE |
Recent genetic studies of neuropsychiatric disorders have pinpointed contactin-4 (CNTN4), contactin-5 (CNTN5) and contactin-6 (CNTN6) as candidate genes in neurodevelopmental disorders, particularly in autism spectrum disorders (ASDs), but also in intellectual disability, schizophrenia (SCZ), attention-deficit hyperactivity disorder (ADHD), bipolar disorder (BD), alcohol use disorder (AUD) and anorexia nervosa (AN).
|
28064060 |
2017 |
|
Anorexia Nervosa
|
0.020 |
Biomarker
|
disease |
BEFREE |
However, we identified several regions with rare CNVs that were only observed in AN cases, including a recurrent 13q12 deletion (1.5 Mb) disrupting SCAS in two cases, and CNVs disrupting the CNTN6/CNTN4 region in several AN cases.
|
21079607 |
2011 |
|
Ataxia, Spinocerebellar
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.
|
17915252 |
2008 |
|
Ataxia, Spinocerebellar
|
0.020 |
Biomarker
|
disease |
LHGDN |
The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.
|
17030759 |
2006 |
|
Atypical femoral fracture
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.
|
31006051 |
2019 |
|
Autism Spectrum Disorders
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Based on this finding and previous reports implicating genomic rearrangements of CNTN4 in autism spectrum disorders (ASDs) and 3p- microdeletion syndrome, we undertook sequencing of the coding regions of the gene in a local ASD cohort in comparison with a set of controls.
|
21308999 |
2011 |
|
Autism Spectrum Disorders
|
0.070 |
Biomarker
|
disease |
BEFREE |
Deletions and duplications involving the CNTN4 gene, which encodes for the contactin 4 protein, have been reported in children with autism spectrum disorder (ASD) and other neurodevelopmental phenotypes.
|
31422286 |
2020 |
|
Autism Spectrum Disorders
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x 10(-3)).
|
19404257 |
2009 |
|
Autism Spectrum Disorders
|
0.070 |
Biomarker
|
disease |
BEFREE |
Recent genetic studies of neuropsychiatric disorders have pinpointed contactin-4 (CNTN4), contactin-5 (CNTN5) and contactin-6 (CNTN6) as candidate genes in neurodevelopmental disorders, particularly in autism spectrum disorders (ASDs), but also in intellectual disability, schizophrenia (SCZ), attention-deficit hyperactivity disorder (ADHD), bipolar disorder (BD), alcohol use disorder (AUD) and anorexia nervosa (AN).
|
28064060 |
2017 |
|
Autism Spectrum Disorders
|
0.070 |
Biomarker
|
disease |
BEFREE |
In this study, we used mutant/knock-out mice of Shank2 (<i>Shank2</i><sup>-/-</sup>), Shank3 (<i>Shank3</i>αβ<sup>-/-</sup>), and Cntn4 (<i>Cntn4</i><sup>-/-</sup>) as ASD-models to explore whether these mice share a molecular signature in glutamatergic and GABAergic synaptic transmission in ASD-related brain regions.
|
29970989 |
2018 |
|
Autism Spectrum Disorders
|
0.070 |
Biomarker
|
disease |
BEFREE |
Disruption of contactin 4 in three subjects with autism spectrum disorder.
|
18349135 |
2009 |
|
Autism Spectrum Disorders
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism; and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates.
|
18179895 |
2008 |
|
Autistic Disorder
|
0.340 |
Biomarker
|
disease |
BEFREE |
Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors.
|
21308999 |
2011 |
|
Autistic Disorder
|
0.340 |
Biomarker
|
disease |
BEFREE |
The contactin (CNTN) family of Ig cell adhesion molecules (IgCAMs) harbours at least three members that have genetically been implicated in autism: CNTN4, CNTN5, and CNTN6.
|
23872404 |
2013 |
|
Autistic Disorder
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism; and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates.
|
18179895 |
2008 |
|
Autistic Disorder
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations.
|
22750301 |
2012 |
|
Autistic Disorder
|
0.340 |
Biomarker
|
disease |
CTD_human |
Disruption of contactin 4 in three subjects with autism spectrum disorder.
|
18349135 |
2009 |
|
Benign Neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Contactin 4 (CNTN4) was overexpressed in malignant vs benign tumors [4.62-fold; false discovery rate (FDR), 0.001].
|
28938490 |
2018 |
|
Bipolar Disorder
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Bipolar disorder with alcohol dependence and other co-morbidities was associated with SNP rs2727943 (p = 3.3×10⁻⁸) on chromosome 3p26.3 located between the genes contactin-4 precursor (BIG-2) and contactin 6 (CNTN6).
|
22205951 |
2011 |
|
Blood basophil count (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |