NLGN3, neuroligin 3, 54413

N. diseases: 63; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE Genetic background effects in Neuroligin-3 mutant mice: Minimal behavioral abnormalities on C57 background. 29028156 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the corresponding mutations produce robust synaptic and behavioral changes. 24995986 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE Glioblastoma recurrence correlates with NLGN3 levels. 29777576 2018
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 Biomarker disease BEFREE After controlling for age and gender, the NL-3 knock-in animals demonstrated significantly reduced sociability and lower anxiety-related behavior in comparison to their wild type littermates. 25299583 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 Biomarker group BEFREE After controlling for age and gender, the NL-3 knock-in animals demonstrated significantly reduced sociability and lower anxiety-related behavior in comparison to their wild type littermates. 25299583 2014
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
0.600 Biomarker disease CTD_human
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
0.600 GeneticVariation disease UNIPROT Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 12669065 2003
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
0.600 SusceptibilityMutation disease CLINVAR
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE In the face of growing controversy about the utility of genetic mouse models of human disease, Rothwell et al. report on a shared mechanism by which two different neuroligin-3 mutations, associated with autism spectrum disorders in humans, produce an enhancement in motor learning. 24995974 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE Here, we describe a synaptic cluster of ASD-associated proteins centered on CYFIP1 and the adhesion protein Neuroligin-3. 30664619 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE The neurobiological bases of autism spectrum disorders: the R451C-neuroligin 3 mutation hampers the expression of long-term synaptic depression in the dorsal striatum. 28921757 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a point mutation that substituted a Cys for Arg451. 15152050 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. 22892527 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis. 21364653 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at NLGN1 (rs1488545, P=0.002), NLGN3 (DXS7132, P=0.014), and NLGN4 (DXS996, P=0.031). 16077734 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. 28841651 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE The Neuroligin-3 (NL3) mouse, expressing a R451C mutation discovered in two Swedish brothers with ASD, exhibits impaired social interactions and heightened aggressive behavior towards male mice. 28255463 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE We conclude that there is no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level in our study group. 18189281 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease RGD FMRP, a protein with numerous proposed functions including regulation of mRNA and synaptic protein synthesis, and NLGN3, a member of the neuroligin synaptic cell-adhesion protein family, have been implicated in human ASD. 24773431 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE Neuroligin-3 (NL-3) is a cell adhesion protein that mediates synapse development and has been implicated in ASD. 25299583 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE Neuroligin 3 R451C mutation alters electroencephalography spectral activity in an animal model of autism spectrum disorders. 28385162 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X-linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. 16508939 2006
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE Global or VTA DA neuron-specific loss of the ASD-associated synaptic adhesion molecule neuroligin 3 alters the behavioral response toward nonfamiliar conspecifics and the reinforcing properties of conspecific interaction. 30093665 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 GeneticVariation disease BEFREE The present study provides initial evidence that a common variant in NLGN3 gene may play a role in the etiology of ASDs among affected males in Chinese Han population, and further supports the hypothesis that defect of synapse might involvement in the pathophysiology of ASDs. 21569590 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.600 Biomarker disease BEFREE The Neuroligin-3 (NL3)<sup>R451C</sup> mouse model of ASD has a heightened aggressive phenotype, however the biological mechanisms underlying this behavior are unknown. 30123111 2018