Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease MGD
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). 23533028 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Besides previously reported ASD candidate genes, such as NRXN1 (ref. 19404257 2009
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. 23849776 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes. 23879678 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9). 23393157 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs. 30988517 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE However, a number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD. 18179900 2008
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. 22209245 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease CTD_human Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. 19432386 2009
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Our data support previous observations that NRXN1 may be pathogenic in a wide variety of psychiatric diseases, including autism spectrum disorder, global developmental delay, anxiety, and depression. 20162629 2010
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 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
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. 25131214 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115 Thai patients with ID and ASD by direct DNA sequencing. 24832020 2014
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE The phenotype of individuals with NRXN1 deletion is variable and includes autism spectrum disorders, mental retardation, language delays, and hypotonia. 20468056 2010
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease RGD The presence of pronounced impairments in several domains in NRXN1α KO rats clearly suggests that nonsocial cognitive deficits can also be measured in an animal model of ASD. 25420124 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. 30031152 2019