DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 Biomarker disease BEFREE SZ and ASD neurons share a reduced capacity for cortical differentiation as shown by quantitative analysis of the synaptic marker PSD95 and neurite outgrowth. 31358727 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 AlteredExpression disease BEFREE Network analysis of both regions of ASD brain showed up-regulation of multiple pre- and post-synaptic membrane or scaffolding proteins including glutamatergic ion channels and related proteins, up-regulation of proteins involved in intracellular calcium signaling, and down-regulation of neurofilament proteins, with DLG4 and MAPT as major hub proteins in BA19 and CB protein interaction networks, respectively. 31511657 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 Biomarker disease BEFREE Netrin-G ligand 2 (NGL-2)/LRRC4, implicated in autism spectrum disorders and schizophrenia, is a leucine-rich repeat-containing postsynaptic adhesion molecule that interacts intracellularly with the excitatory postsynaptic scaffolding protein PSD-95 and trans-synaptically with the presynaptic adhesion molecule netrin-G2. 29949768 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 GeneticVariation disease BEFREE Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. 27271353 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 Biomarker disease CTD_human These findings demonstrate that DLG4 gene disruption in mice produces a complex range of behavioral and molecular abnormalities relevant to autism spectrum disorders and Williams' syndrome. 20952458 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 Biomarker disease BEFREE These findings demonstrate that DLG4 gene disruption in mice produces a complex range of behavioral and molecular abnormalities relevant to autism spectrum disorders and Williams' syndrome. 20952458 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.550 Biomarker disease MGD
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
0.510 Biomarker disease CTD_human The study provides an initial link between human DLG4 gene variation and key neural endophenotypes of Williams' syndrome and perhaps corticoamygdala regulation of emotional and social processes more generally. 20952458 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
0.510 Biomarker disease MGD The study provides an initial link between human DLG4 gene variation and key neural endophenotypes of Williams' syndrome and perhaps corticoamygdala regulation of emotional and social processes more generally. 20952458 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
0.510 GeneticVariation disease BEFREE The study provides an initial link between human DLG4 gene variation and key neural endophenotypes of Williams' syndrome and perhaps corticoamygdala regulation of emotional and social processes more generally. 20952458 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE This study highlights the importance of PSD-95 during neurodevelopment in the mPFC and its potential link in the pathogenesis associated with schizophrenia and/or autism. 31263190 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE This result suggests that PSD95 may be involved in behavioral abnormalities of schizophrenia. 31112730 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Among the results, we found a significant reduction in synaptophysin in schizophrenia in the hippocampus (effect size: -0.65, p < 0.01), frontal (effect size: -0.36, p = 0.04), and cingulate cortices (effect size: -0.54, p = 0.02), but no significant changes for synaptophysin in occipital and temporal cortices, and no changes for SNAP-25, PSD-95, VAMP, and syntaxin in frontal cortex. 29511299 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Moreover, we also found nine common DEGs between the mPFC and striatum of <i>Shank3</i> TG mice, among which we further characterized ASD- and SCZ-associated G protein-coupled receptor 85 (<i>Gpr85</i>), encoding an orphan <i>Gpr</i> interacting with PSD-95. 30233305 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Netrin-G ligand 2 (NGL-2)/LRRC4, implicated in autism spectrum disorders and schizophrenia, is a leucine-rich repeat-containing postsynaptic adhesion molecule that interacts intracellularly with the excitatory postsynaptic scaffolding protein PSD-95 and trans-synaptically with the presynaptic adhesion molecule netrin-G2. 29949768 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Understanding the role of PSD-95 in the neuropathologies of SCZ and autism will give an insight of the cellular and molecular attributes in the disorders, thus providing treatment options in patients affected. 29169997 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Our findings describe a unique pathophysiology of specific PSD-95 isoform dysregulation in schizophrenia, chronic neuroleptic treatment, and a genetic lesion mouse model of drastically reduced N-methyl-d-aspartate receptor (NMDAR) complex expression. 28126896 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE We have recently reported that protein levels of FRMPD4, a multiscaffolding protein that modulates both Homer1 and postsynaptic density protein 95 activity, is altered in the schizophrenia postmortem brain, in regions involved in cognition. 26555035 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. 27271353 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Changes in cortical N-methyl-D-aspartate receptors and post-synaptic density protein 95 in schizophrenia, mood disorders and suicide. 26013316 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Although no allelic or genotypic variances of this gene were observed, the possibility that SNPs within DLG4 represent a positive schizophrenia risk gene cannot be excluded. 23921260 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease PSYGENET Although no allelic or genotypic variances of this gene were observed, the possibility that SNPs within DLG4 represent a positive schizophrenia risk gene cannot be excluded. 23921260 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE The DLG4 expression levels between postmortem brain samples from schizophrenia patients showed no significant changes from controls. 23936182 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE SCZD hiPSC neurons showed diminished neuronal connectivity in conjunction with decreased neurite number, PSD95-protein levels and glutamate receptor expression. 21490598 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease PSYGENET Our data indicate that the expression of the DLG4 gene is subject to regulation by the polymorphic markers at the core promoter region, 5' and 3'UTR of the gene, and is associated with the susceptibility of schizophrenia. 21151988 2010