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: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 AlteredExpression group BEFREE Subgroup genetic mappings uncovered additional shared synaptic genes, including CAMK4, CNTN5 and DNM3 (hypertension-specific); CNTN4, DNM3, FHIT and ITPR1 (sex-specific), having protein interactions with genes driven from general analysis. 22297481 2012
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.010 AlteredExpression disease BEFREE Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. 28938490 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.010 AlteredExpression disease BEFREE Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. 28938490 2018
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: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 AlteredExpression disease BEFREE Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. 28938490 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 AlteredExpression disease BEFREE Mutation and gene expression analyses of well-defined EOC cell lines (OV-90, TOV-112D, TOV-21G, and TOV-81D) that differ in their tumorigenic potential and chromosome 3p26-pter genomic content revealed CNTN4 expression and a novel mutation only in the tumorigenic EOC cell line TOV-21G. 19509545 2009
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 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 Biomarker disease CTD_human Disruption of contactin 4 in three subjects with autism spectrum disorder. 18349135 2009
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: 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
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: 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: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
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
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Pregnancies during and after trastuzumab and/or lapatinib in patients with human epidermal growth factor receptor 2-positive early breast cancer: Analysis from the NeoALTTO (BIG 1-06) and ALTTO (BIG 2-06) trials. 30335191 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Dissecting the effect of hormone receptor status in patients with HER2-positive early breast cancer: exploratory analysis from the ALTTO (BIG 2-06) randomized clinical trial. 31134488 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE p-STAT3 in luminal breast cancer: Integrated RNA-protein pooled analysis and results from the BIG 2-98 phase III trial. 29207087 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE Dissecting the effect of hormone receptor status in patients with HER2-positive early breast cancer: exploratory analysis from the ALTTO (BIG 2-06) randomized clinical trial. 31134488 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE p-STAT3 in luminal breast cancer: Integrated RNA-protein pooled analysis and results from the BIG 2-98 phase III trial. 29207087 2018