Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 GeneticVariation disease BEFREE Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. 17230033 2007
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 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 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 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 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 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 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 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 GeneticVariation disease BEFREE Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. 20162629 2010
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 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 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: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population. 24398551 2014
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. 28179641 2017
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. 26489495 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. 23468870 2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Rare mutations in SHANK3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia. 24132240 2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Contribution of SHANK3 mutations to autism spectrum disorder. 17999366 2007
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE The SHANK3 gene encoding core scaffolding proteins at glutamatergic postsynapse is a typical dosage-sensitive gene, both deletions and duplications of which are associated with Phelan-McDermid syndrome, autism spectrum disorders, bipolar disorder, intellectual disability, or schizophrenia. 26572867 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 22892527 2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.500 GeneticVariation disease BEFREE Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. 22503632 2012