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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities. 22106001 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism (26.2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)). 22405623 2012
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Sequence variants in NRXN1 are associated with differences in cognition, and with schizophrenia and autism. 22832527 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. 21626680 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. 21739571 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease CTD_human At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. 20157312 2011
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease CTD_human At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. 20157312 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 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 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 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 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 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 		0.700 GeneticVariation disease BEFREE Overall, however, the results do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia. 21288692 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Three additional subjects with NRXN1 deletions and autism were identified through the Homozygosity Mapping Collaborative for Autism, and this deletion segregated with the phenotype. 20468056 2010