NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). 27195815 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290). 24906019 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation. 22504536 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 AlteredExpression group BEFREE Mutation of the neurexin1-gene, NRXN1, interrupting the expression of neurexin1 has been associated with schizophrenia, autism, and intellectual disability. 22337556 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 GeneticVariation group BEFREE Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to mental retardation, typical autism, or Asperger syndrome. 19545994 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082 2008