CNTN4, contactin 4, 152330

N. diseases: 58; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 Biomarker disease CTD_human Disruption of contactin 4 in three subjects with autism spectrum disorder. 18349135 2009
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0005586
Disease: Bipolar Disorder
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
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		0.300 Biomarker group CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.110 GeneticVariation disease BEFREE Single nucleotide polymorphisms in an Indian cohort and association of CNTN4, MMP2 and SNTB1 variants with oral cancer. 28595731 2017
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.110 GeneticVariation disease CLINVAR
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.100 GeneticVariation phenotype GWASCAT A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture. 31006051 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study. 29503163 2018
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018