Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Genetic defects in neuroligin 3 (NL3), a member of the NL protein family, are associated with autism. 31849609 2019
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Mutations in genes encoding synaptic proteins including Neuroligin-3 are associated with autism. 31002480 2019
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. 31119867 2019
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE This mouse model carries the human R451C mutation in the neuroligin 3 (NL3) gene that has been associated with highly penetrant autism in a Swedish family. 28921757 2018
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Here, we have investigated whether this protective cellular response is detectable in the knock-in mouse model of autism endogenously expressing R451C NLGN3. 30201312 2018
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Importantly, NLGN-3 and NLGN-4 mutations are strongly implicated as candidates underlying the development of neuropsychiatric disorders with social disturbances such as autism, but the role of NLGN-2 in neuropsychiatric disease states is unclear. 29339486 2018
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia. 27865048 2017
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Mutations in neuroligin-3 predispose to autism, but how such mutations affect synaptic function remains incompletely understood. 27725662 2017
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease BEFREE Knockin mice expressing the Nlgn3R451C mutation in place of wild-type Nlgn3 demonstrate increased inhibitory synaptic strength in somatosensory cortex, resulting in an excitatory/inhibitory (E/I) imbalance that is potentially relevant for autism-associated behavioral deficits characteristic of these mice. 26469287 2015
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Interestingly, genetic analysis of humans showed a mutation in the neuroligin 2 gene in schizophrenic patients, while mutations in neuroligin 3 or 4 genes were found in autism. 25149987 2014
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology. 24995986 2014
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease BEFREE Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population. 24570023 2014
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease BEFREE Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism. 23851596 2013
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1. 22671294 2012
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease 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
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE In mice, γ phase-locking factor was correlated with expression of the autism risk gene neuroligin-3 and neural deficits were modulated by the mGluR5-receptor antagonist MPEP. 21130222 2010
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates. 20615874 2010
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. 19645625 2009
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3. 19406211 2009
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. 17823315 2007
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 Biomarker disease BEFREE Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. 16648374 2006
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease LHGDN To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). 16508939 2006
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease LHGDN Additionally, the NLGN3 transcript was present in two isoforms (with and without exon 7) in nine of 10 autistic females and in 30 non-autistic subjects, including parents of the autistic female having only the complete transcript with exon 7, and from the whole brain of a control. 16648374 2006
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
0.500 GeneticVariation disease BEFREE Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. 16508939 2006