NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
0.700 Biomarker disease BEFREE Eight recurrent CNVs have reproducibly been shown to increase the risk of schizophrenia by severalfold: 22q11.2(del), 15q13.3(del), 1q21(del), 1q21(dup), NRXN1(del), 3q29(del), 7q11.23(dup), and 16p11.2(dup). 30144930 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE 2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. 31812984 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE This study examined five NRXN1 single-nucleotide polymorphisms (SNPs) for possible association with the occurrence and severity of TD in 178 schizophrenia patients of European ancestry. 28120489 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE These data suggest a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation. 25943950 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE All of them affect multiple genes (apart from NRXN1) and cause substantial increases in risk to develop schizophrenia (odds ratios of 2 to over 50). 26130694 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. 26563496 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 Biomarker disease BEFREE Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia. 26279266 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE Thus we have added to the evidence that NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals. 24680031 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE Our results provide confirmatory evidence of genetically determined differences in drug response in patients with schizophrenia related to NRXN1 variation. 24633560 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. 23495017 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 AlteredExpression disease BEFREE Mutation of the neurexin1-gene, NRXN1, interrupting the expression of neurexin1 has been associated with schizophrenia, autism, and intellectual disability. 22337556 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE The overall frequency of CNVs in regions with reported associations with schizophrenia (chromosomes 1q21.1, 15q13.3, 16p11.2, and 22q11.2 and the neurexin-1 gene [NRXN1]) was similar to previous case-control studies. 22885689 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 Biomarker disease BEFREE There is evidence both for an increased burden of large, rare CNVs in schizophrenia and that risk is conferred by a number of specific large CNVs as well as by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1. 21895634 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 Biomarker disease CTD_human 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms. 21477380 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 AlteredExpression disease BEFREE In both human and mice, NRXN1 is co-expressed with numerous synaptic and cell signaling genes, and known schizophrenia candidates. 22832527 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response. 21890328 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation disease BEFREE The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. 21285140 2011