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: 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 CLINVAR
CUI: C0149744
Disease: Oral lesion
Oral lesion 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1510586
Disease: Autism Spectrum Disorders
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
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: C0086692
Disease: Benign Neoplasm
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
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population. 22318345 2012
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population. 22318345 2012
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 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.010 Biomarker disease BEFREE Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure. 22386932 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
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: 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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1. 28044437 2017
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: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 Biomarker disease BEFREE Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.070 Biomarker disease BEFREE Disruption of contactin 4 in three subjects with autism spectrum disorder. 18349135 2009
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 Biomarker group BEFREE Disruption of contactin 4 in three subjects with autism spectrum disorder. 18349135 2009
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