Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE These are the first experimental data that associate a deletion of Neurexin 1α with alterations in behaviours relevant to autism spectrum disorder across development and highlight the importance of assessing the developmental trajectory in mouse models of neurodevelopmental disorders.This article is protected by copyright.All rights reserved. 31823470 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. 30031152 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. 31759289 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE We generated human iPS derived neural stem cells and differentiated cells from healthy control individuals and an individual with autism spectrum disorder carrying bi-allelic NRXN1-alpha deletion. 31302032 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs. 30988517 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE To better understand the degree and extent to which individual genes associated with ASD differ in their contribution to global measures of white matter microstructure, diffusion tensor imaging (DTI) was acquired from three novel rat genetic models of ASD (Fmr1, Nrxn1, and Pten) and DTI parameters of fractional anisotropy, mean, axial, and radial diffusivity were measured. 30557783 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. 26563496 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease RGD The presence of pronounced impairments in several domains in NRXN1α KO rats clearly suggests that nonsocial cognitive deficits can also be measured in an animal model of ASD. 25420124 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. 25131214 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115 Thai patients with ID and ASD by direct DNA sequencing. 24832020 2014
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes. 23879678 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. 23849776 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). 23533028 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder. 23840597 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9). 23393157 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE We review the evidence for the role of neurexin-1α in schizophrenia and ASD, and consider how genetic disruption of neurexin-1α may underpin the neuropathology contributing to these distinct neurodevelopmental disorders. 21262241 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. 22209245 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE This includes the ASD susceptibility gene neurexin 1, which showed a distinct pattern from neurexin 3 in vitro, and which we validated in vivo in fetal human brain. 21647150 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1. 22228009 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. 22617343 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders. 21424692 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. 21827697 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1. 21915259 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE However, the manner in which NRXN1 gene variation may be related to brain morphology to confer risk for ASD or schizophrenia is unknown. 21687627 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1. 21658581 2011