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 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 LHGDN Neurexin 1alpha structural variants associated with autism. 18490107 2008
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 LHGDN Disruption of neurexin 1 associated with autism spectrum disorder. 18179900 2008
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 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 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: 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 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 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 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 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 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: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response. 21890328 2011