PSD, pleckstrin and Sec7 domain containing, 5662

N. diseases: 59; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE The involvement of PSD in the pathophysiology of schizophrenia is supported by post mortem studies, preclinical animal models, modulation by antipsychotics, and association of PSD genes with schizophrenia in GWAS. 31461641 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Interestingly, gene sets previously implicated in SCZ (i.e., post-synaptic density (PSD) proteins, voltage-gated calcium channels (VGCCs), and fragile X mental retardation protein (FMRP) targets) were found significantly enriched in genes carrying IBD<sub>risk</sub> variants. 29411265 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. 29415158 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE Our results suggest that rare missense mutations in the candidate PSD genes may increase susceptibility to SZ and/or ASD. 27271353 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 GeneticVariation disease BEFREE To investigate the genetic relationship of genes expressed in the PSD with schizophrenia, a family-based association analysis of genetic variants in PSD genes such as DLG4, DLG1, PICK1 and MDM2, was performed, using Japanese samples (124 pedigrees, n = 376 subjects). 23936182 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium. 18033238 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE We previously identified abnormalities of multiple molecules associated with glutamatergic neurotransmission, including changes in NMDA receptor subunit transcripts and binding sites and NMDA receptor-associated post-synaptic density (PSD) protein transcripts in the thalamus of elderly patients with schizophrenia. 16762023 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease PSYGENET Changes in NMDA receptor subunits and interacting PSD proteins in dorsolateral prefrontal and anterior cingulate cortex indicate abnormal regional expression in schizophrenia. 16702973 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 AlteredExpression disease BEFREE Changes in NMDA receptor subunits and interacting PSD proteins in dorsolateral prefrontal and anterior cingulate cortex indicate abnormal regional expression in schizophrenia. 16702973 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Abnormal striatal expression of transcripts encoding NMDA interacting PSD proteins in schizophrenia, bipolar disorder and major depression. 16023328 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.400 Biomarker disease BEFREE Analysis of the interaction between smoking and schizophrenia identified several genes in the NMDA-PSD that were differentially affected by smoking in patients. 16122832 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE This study identifies <i>CAPG</i> and <i>VDAC3</i> as candidate genes and provides additional support for genes encoding PSD proteins in ASD susceptibility. 30736458 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE Mutations within the <i>Shank3</i> gene, which encodes a key postsynaptic density (PSD) protein at glutamatergic synapses, contribute to the genetic etiology of defined autism spectrum disorders (ASDs), including Phelan-McDermid syndrome (PMS) and intellectual disabilities (ID). 30971895 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 GeneticVariation disease BEFREE The <i>SHANK3</i> gene (and to a lesser degree <i>SHANK2</i>) which encode for the postsynaptic density (PSD) proteins SHANK3/SHANK2 and the <i>CONTACTIN 4</i> gene which encodes for the neuronal glycoprotein CONTACTIN4 (CNTN4) exhibit mutated variants which are associated with ASD. 29970989 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. 29415158 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 GeneticVariation disease BEFREE Our results suggest that rare missense mutations in the candidate PSD genes may increase susceptibility to SZ and/or ASD. 27271353 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.060 Biomarker disease BEFREE Several PSD proteins associated with ASDs are part of a complex centered around ProSAP/Shank proteins and many ProSAP/Shank interaction partners play a role in signaling within dendritic spines. 23650259 2014
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.040 Biomarker disease BEFREE There was a significant correlation (p<0.05) between MD, PSD and many DCRs with POAG patients with softer or more compliant corneas more likely to show visual field defects. 30923134 2020
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.040 Biomarker disease BEFREE In the POAG group, there was a significant negative correlation between PSD on one hand and P50 amplitude (r=-0.620, P=0.001) and N95 amplitude (r=-0.61, P<0.001) on the other hand. 31306362 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.040 AlteredExpression disease BEFREE <b>Abbreviations</b>: POAG = primary open-angle glaucoma; RGC = retinal ganglion cell; OCTA = optical coherence tomography angiography; RNFL = retinal nerve fiber layer; PPG = pre-perimetric primary open-angle glaucoma; EG = early perimetric primary open-angle glaucoma; IOP = intraocular pressure; PSD = pattern standard deviation; MD = mean deviation; GCC = ganglion cell complex; SBP = systolic blood pressure; DBP = diastolic blood pressure; MAP = mean arterial pressure; MOPP = mean ocular perfusion pressure; wiVD = whole image vessel density; ParaVD = parafoveal vessel density; PeriVD = perifoveal vessel density; RPC VD = radial peripapillary capillary vessel density; AUC = area under the receiver operating curve. 31587582 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.040 GeneticVariation disease BEFREE POAG subjects with the epsilon2epsilon3 genotype had a worse PSD value (median=2.2) than those with the epsilon3epsilon4 genotype (median=1.77; p=0.01) and POAG subjects with the epsilon3epsilon3 genotype had worse MD and PSD values (median= -7.4 and 3.4, respectively) than those with the epsilon3epsilon4 genotype (median= -4.1 and 1.77, respectively; p=0.034 and 0.028, respectively). 19578553 2009
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.030 Biomarker group BEFREE Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. 31616000 2019
CUI: C0241210
Disease: Speech Delay
Speech Delay
0.030 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
CUI: C0241210
Disease: Speech Delay
Speech Delay
0.030 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Finally, both in vivo distribution and in vivo antitumor showed the R<sub>7</sub>/PSD-Fol NPs displayed the better distribution at tumor site and the stronger suppression of tumor growth in the tumor bearing nude mice compared with control group. 28291364 2017