NRXN1, neurexin 1, 9378

N. diseases: 74; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation 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 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility. 25943950 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia. 24633560 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Incomplete penetrance of NRXN1 deletions in families with schizophrenia. 24680031 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. 22832527 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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
0.400 GeneticVariation 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 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation 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
0.400 GeneticVariation disease BEFREE NRXN1 deletions and 16p11.2 duplications (both of which were transmitted from parents) and 22q11.2 deletions (de novo in four cases) did not segregate with schizophrenia in families. 22885689 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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
0.400 GeneticVariation disease BEFREE Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia. 22118685 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 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
0.400 GeneticVariation disease BEFREE The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response. 21890328 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease CTD_human We also identified a de novo truncating mutation in NRXN1 in a patient with SCZ, and other potential pathogenic ASD mutations. 21424692 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE These include ZNF804A, TCF4 and NRGN, which contain common variants that weakly increase schizophrenia susceptibility, and NRXN1, in which rare copy number variants have a greater impact on schizophrenia risk. 20934321 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. 21687627 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE We found five patients with a CNV occurring in one of the regions most convincingly implicated as risk factors for schizophrenia: NRXN1 and the 16p13.1 regions were found to be deleted in single patients and 15q11.2 in 2 patients, whereas the 15q13.3 region was duplicated in one patient. 20967226 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. 21288692 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease CTD_human 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 21424692 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease CTD_human Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 21424692 2011