|
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 |
|
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 |
|
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 |
|
Absent speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute lymphocytic leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23).
|
20113834 |
2010 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Aggressive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Albuminuria
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.
|
30220432 |
2018 |
|
Alcohol consumption
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study of behavioral disinhibition.
|
23942779 |
2013 |
|
Alcohol-Induced Disorders
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
A genome-wide association study of behavioral disinhibition.
|
23942779 |
2013 |
|
Alcohol-Related Disorders
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
A genome-wide association study of behavioral disinhibition.
|
23942779 |
2013 |
|
Alcoholic Intoxication, Chronic
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study of behavioral disinhibition.
|
23942779 |
2013 |
|
Alzheimer Disease, Late Onset
|
0.010 |
Biomarker
|
disease |
BEFREE |
Gene-based association analyses confirmed previous findings in the ADNI study (ATXN1, HLA-DPB1, RELN, DOPEY2, GSTT1, CHRFAM7A, ERBB4, NRXN1) and identified a new gene (IMMP2L) that may play a role in AD susceptibility.
|
22486522 |
2012 |
|
Alzheimer's Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The concentrations of the synaptic proteins neurexin-1 and neuronal pentraxin-1, as well as neurofascin were also significantly lowered in AD (p<0.05).
|
29028155 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
|
17362836 |
2007 |
|
Asperger Syndrome
|
0.010 |
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 |
|
Attention deficit hyperactivity disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5-BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21.
|
31624239 |
2019 |
|
Auditory Processing Disorder, Central
|
0.300 |
Biomarker
|
disease |
CTD_human |
Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility.
|
20157312 |
2011 |
|
Autism Spectrum Disorders
|
0.600 |
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 |
|
Autism Spectrum Disorders
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
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 |
|
Autism Spectrum Disorders
|
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 |
|
Autism Spectrum Disorders
|
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 |
|
Autism Spectrum Disorders
|
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 |
|
Autism Spectrum Disorders
|
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 |