Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 Biomarker disease CTD_human Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging. 22037176 2012
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 GeneticVariation disease BEFREE Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. 19430570 2009
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 GeneticVariation disease BEFREE Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. 17230033 2007
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 GeneticVariation disease BEFREE Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families. 15952184 2006
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 Biomarker disease HPO
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.630 Biomarker disease MGD
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
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 2016
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 2016
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease RGD NRXN1-α knockout (KO) mice present behavioral impairments that resemble some of the core ASD symptoms of social impairment and inflexibility/stereotypy. 25420124 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease RGD Heterozygous partial deletions in the neurexin-1 gene (NRXN1, 2p16.3) have been observed in autism spectrum disorder (ASD) patients. 25420124 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder. 24832020 2015
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 2014
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 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 2013
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 GeneticVariation disease BEFREE This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1. 22228009 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
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
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 This includes the ASD susceptibility gene neurexin 1, which showed a distinct pattern from neurexin 3 in vitro, and which we validated in vivo in fetal human brain. 21647150 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 AlteredExpression 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 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 GeneticVariation disease BEFREE Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 21424692 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
0.600 Biomarker disease BEFREE Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. 21687627 2011
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 We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1. 21658581 2011
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