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: 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: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.010 Biomarker phenotype BEFREE This transcript (also known as BIG-2) is a member of the immunoglobulin super family of neuronal cell adhesion molecules involved in axon growth, guidance, and fasciculation in the central nervous system (CNS). 15106122 2004
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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.020 Biomarker disease LHGDN The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. 17030759 2006
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.010 Biomarker disease BEFREE The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. 17030759 2006
CUI: C4014261
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 		0.010 Biomarker disease BEFREE The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. 17030759 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. 17036314 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 Biomarker disease BEFREE FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. 17036314 2006
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		0.010 Biomarker disease BEFREE We suggest that 3p- syndrome associated features are primarily caused by loss of CNTN4 and CRBN, with loss of CHL1 probably having an additional detrimental effect on the cognitive functioning of the present patient. 17036314 2006
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.020 GeneticVariation disease BEFREE The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia. 17915252 2008
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: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype 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: 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: 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: 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