SYNPO, synaptopodin, 11346

N. diseases: 37; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 AlteredExpression disease BEFREE Myo-inositol treatment ameliorated the decreased expression of ZO-1 and synaptopodin in an in vitro FSGS model, and as myo-inositol increased, myo-inositol oxygenase tissue expression decreased proportionally to eGFR. 31605028 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 AlteredExpression disease BEFREE For the FSGS group, the rate of renal function decline significantly correlated with baseline urinary synaptopodin mRNA levels (r = -0.496, p = 0.012). 26308082 2015
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 AlteredExpression disease BEFREE Compared with normal glomeruli, fewer cells stained for APOL1 in FSGS and HIVAN glomeruli, even when expression of the podocyte markers GLEPP1 and synaptopodin appeared normal. 21997392 2011
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 GeneticVariation disease BEFREE So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS. 19666657 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 Biomarker disease GENOMICS_ENGLAND So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS. 19666657 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 Biomarker disease BEFREE Moreover, bigenic heterozygosity for synaptopodin and CD2AP is sufficient to induce spontaneous proteinuria and focal segmental glomerulosclerosis-like glomerular damage in mice. 17569780 2007
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 AlteredExpression disease LHGDN We investigated the association between expression of synaptopodin and glomerular epithelial protein 1 (GLEPP1) and response to corticosteroid therapy in primary FSGS. 16564554 2006
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.370 Biomarker disease BEFREE Combinations of Cd2ap heterozygosity and heterozygosity of either synaptopodin (Synpo) or Fyn proto-oncogene (Fyn) but not kin of IRRE like 1 (Neph1) resulted in spontaneous proteinuria and in FSGS-like glomerular damage. 16628251 2006
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
0.310 Biomarker disease GENOMICS_ENGLAND Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 19666657 2010
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
0.310 GeneticVariation disease BEFREE So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS. 19666657 2010
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.040 AlteredExpression disease BEFREE Simultaneously, HG decreased the mRNA and protein expression of Wilm's tumor-1 and synaptopodin, and increased the mRNA and protein expression levels of desmin in podocytes, in a dose-dependent manner. 30257355 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.040 AlteredExpression disease BEFREE The expression of Wilms tumor 1 (WT-1) and synaptopodin was evaluated to identify differentiated podocytes, and the expression of nephrin, podocin, and CD2ap was measured as markers of slit diaphragms, the main structures within the glomerular filtration barrier. 28719912 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.040 GeneticVariation disease BEFREE Using an immunohistochemical technique, we examined the natural course of nephrin, Wilms' tumor-1 (WT1) and synaptopodin at 16.5 days of embryonic age (E16.5d) and E19.5d, 7 days of post-neonatal age (P7d) and P42d during renal development of mice. 28179596 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.040 GeneticVariation disease BEFREE WT1(R458Q) overexpression significantly downregulated nephrin and synaptopodin expression, promoted apoptosis in HEK293 cells and impaired focal contact formation in podocytes. 25145932 2015
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.030 Biomarker group BEFREE In this review, we will focus on slit diaphragm proteins such as nephrin, podocin, TRPC6/5, as well as cytoskeletal proteins Rho/small GTPases and synaptopodin and their respective roles in participating in the pathogenesis of proteinuric kidney diseases. 30255020 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.030 Biomarker group BEFREE Because nephrin and synaptopodin are essential for the maintenance of the slit diaphragm in podocytes, these results suggest that proteinuria in adriamycin-induced nephropathy is caused by the reduction in expression of these proteins. 27089875 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.030 Biomarker group BEFREE We identified a progressive loss of synaptopodin expression over a 28 day time-course of ADR nephropathy which was associated with increased acetylation of 14-3-3β and reduced synaptopodin phosphorylation. 23840712 2013
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
0.020 Biomarker group BEFREE This review aims to summarize recent findings on the role of MAGI-2 and some other scaffold proteins, such as nephrin and synaptopodin, in the underlying mechanisms of glomerulopathy. 30110567 2018
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
0.020 AlteredExpression disease BEFREE Histone H3K4 me3 in kidney podocytes was negatively correlated with synaptopodin, an actin-associated protein in podocytes, and the expression was positively correlated with the proteinuria levels in patients with MN. 27855638 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 GeneticVariation disease BEFREE From the PGC results, other SYNPO variants were identified with near significant effects on schizophrenia risk, with a local linkage disequilibrium block displaying signatures of positive selection. 26405221 2016
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
0.020 AlteredExpression disease BEFREE This overexpression was associated with the downregulation of synaptopodin in patients with membranous nephropathy, rats with passive Heymann nephritis, and c-mip transgenic mice, while the abundance of death-associated protein kinase and integrin-linked kinase was increased. 23302718 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 Biomarker disease BEFREE We measured transcript levels of CDC42, CDC42EP3, CDC42EP4; their interacting proteins (septins [SEPT2, 3, 5, 6, 7, 8, and 11], anillin), and other spine-specific proteins (spinophilin, PSD-95, and synaptopodin) in the DLPFC from 31 subjects with schizophrenia and matched normal comparison subjects. 20385374 2010
Primary Focal Segmental Glomerulosclerosis
0.020 GeneticVariation disease BEFREE To investigate the promoter mutations of ACTN4 and SYNPO genes in patients with idiopathic focal segmental glomerulosclerosis (FSGS), and to provide functional analysis of these mutations in the role of FSGS occurrence. 19666657 2010
Primary Focal Segmental Glomerulosclerosis
0.020 AlteredExpression disease BEFREE Reduced expression of both synaptopodin and GLEPP1 is associated with poor response to steroid therapy in primary FSGS. 16564554 2006