| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.080 | GeneticVariation | BEFREE | The X-linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of one unique missense variant, p.Arg451Cys (Jamain et al.2003). | 31184401 | 2019 |
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0.080 | GeneticVariation | 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 |
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0.080 | GeneticVariation | 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 |
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0.080 | GeneticVariation | BEFREE | Knock-in mice carrying a single rare point mutation of NLGN3 (NLGN3 R451C) discovered in the patients with ASDs display a deficit in social interaction and an enhancement of spatial learning and memory ability reminiscent of the clinical phenotype of ASDs. | 27743928 | 2017 |
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0.080 | GeneticVariation | BEFREE | Neuroligin 3 R451C mutation alters electroencephalography spectral activity in an animal model of autism spectrum disorders. | 28385162 | 2017 |
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0.080 | GeneticVariation | 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 |
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0.080 | GeneticVariation | BEFREE | These data suggest that increased inhibitory synaptic transmission may contribute to human ASDs and that the R451C knockin mice may be a useful model for studying autism-related behaviors. | 17823315 | 2007 |
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0.080 | GeneticVariation | 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 |