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: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.020 GeneticVariation disease BEFREE Particularly, we found rare microdeletions within or near two genes, RBFOX1 and NRXN1, previously shown to harbor deletions associated with idiopathic generalized epilepsy, and a microduplication in the proximal region of chromosome 1q21.1, where duplications have been associated with various neurodevelopmental disorders and epilepsy. 25243798 2014
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.020 GeneticVariation disease BEFREE Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. 23533600 2013
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.020 GeneticVariation disease BEFREE We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common IGE syndromes. 23294455 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. 23495017 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. 22617343 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. 22617343 2012
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		0.020 GeneticVariation disease BEFREE Disruption of a number of these genes (including NRXN1, CNTNAP2 and CASK) are known to cause diverse neurodevelopmental brain disorder phenotypes including schizophenia, autism, learning disability and specific language disorder. 20574149 2011
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		0.020 Biomarker disease BEFREE 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: C0344315
Disease: Depressed mood
Depressed mood 		0.020 Biomarker phenotype 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
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.030 GeneticVariation group BEFREE The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. 26563496 2015
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. 26563496 2015
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.030 GeneticVariation group BEFREE The observations suggest a possible gene-dose effect of NRXN1 mutations on type and severity of mental illness and support the notion that the penetrance and pleiotropy of pathogenic CNVs in general are determined by additional genetic variants in the genome. 22337556 2012
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 AlteredExpression disease BEFREE Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation. 22504536 2012
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.030 GeneticVariation group 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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype 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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 AlteredExpression phenotype BEFREE NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence. 20162629 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to mental retardation, typical autism, or Asperger syndrome. 19545994 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 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
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE The intragenic NRXN1 deletion is thought to explain his developmental delay via a separate genetic mechanism. 26590955 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.060 GeneticVariation disease BEFREE The intragenic NRXN1 deletion is thought to explain his developmental delay via a separate genetic mechanism. 26590955 2016