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 AlteredExpression disease BEFREE Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation. 22504536 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 Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia. 24633560 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. 31302032 2019
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 Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. 18945720 2009
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 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 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. 24064682 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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: 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE Rats with impaired social guidance of behavior due to knockout of Nrxn1, an analog of autism-associated gene NRXN, exhibited marked LA-MeA deficits. 28114293 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of NRXN1 in autism and intellectual disability. 25149956 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE We provide support for three previous findings in schizophrenia, as we identified one deletion in a case at 1q21.1, one deletion within NRXN1, and four duplications in cases and one in a control subject at 16p13.1, a locus first implicated in autism and later in schizophrenia. 19880096 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong association with the autism spectrum and other neurodevelopmental disorders. 23472757 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Exonic deletions in NRXN1 have been associated with several neurodevelopmental disorders, including autism, schizophrenia and developmental delay. 23536886 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE Previous analyses of neurexin 1α (Nrxn1α) knockout (KO) mouse as a model of these disorders have revealed impairments in synaptic transmission but failed to reveal defects in social behaviour, one of the core symptoms of autism. 23840597 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE There is evidence both for an increased burden of CNVs in schizophrenia and that risk is conferred by specific large deletions at 1q21.1 and at 15q13.2 and by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1. 19345090 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. 18990708 2009
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 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 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