Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.110 GeneticVariation disease GWASCAT Genetic variants are major determinants of CSF antibody levels in multiple sclerosis. 25616667 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.110 Biomarker disease BEFREE Immunohistochemical study demonstrated infiltration of dimer and polymer IgA1- and A2-positive plasma cells in perivascular spaces, in the parenchyma of MS lesions, and in the adjacent white matter. 16099056 2005
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE Patients with IgA nephropathy often have a genetically determined increase in circulating levels of IgA1 with galactose-deficient O-glycans in the hinge-region (Hit 1). 21949093 2011
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE The aberrant glycosylation of IgA1 is pivotal in the pathogenesis of IgA nephropathy (IgAN). 28035353 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE While showing strong association with an increased risk for IgAN (P = 9.56 × 10(-20)), low total copy numbers of the three variants also showed significant association with renal dysfunction in patients with IgAN (P = 0.03; hazards ratio, 3.69; after controlling for the effects of known prognostic factors) and also with increased serum IgA1 (P = 0.02) and galactose-deficient IgA1 (P = 0.03). 27358498 2016
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE The deficiency of beta1,3 galactose in hinge region of IgA1 molecule played a pivotal role in pathogenesis of IgA nephropathy (IgAN). 19778426 2009
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Analyses of serum IgA1 from IgAN patients revealed an abnormal galactosylation of the O-linked carbohydrate moieties of IgA that may be a result of altered activity of core 1 beta1,3-galactosyltransferase (C1GalT1). 19229831 2009
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Next, we evaluated the IgA1 O-glycan structure of serum IgA from IgAN recipients (n = 26), IgAD donors (n = 17), and non-IgAD helthy donors (n = 27) using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS). 30553446 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Immunoglobulin A nephropathy (IgAN) is considered as mesangiopathy since it initiates in the mesangium; however, other glomerular components are involved and the glomerular capillary wall offers the first contact to circulating macromolecular IgA1. 31755918 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Lectin binding assays confirmed that the IgAN subjects used in this study did indeed display the previously reported abnormality of IgA1 O-glycosylation. 9719151 1998
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE A remarkably lower expression of peripheral lymphocyte miR-155 was observed in IgAN patients, leading to T lymphocyte subgroup drifting (increases in Th2 and Th17 along with decreases in Th1 and Treg), which inhibits Cosmc gene expression and worsens the aberrant glycosylation of IgA1 in IgAN patients. 27796698 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Using time-dependent Cox regression analysis and receiver operating characteristic curves, we assessed prognostic significance of levels of galactose-deficient IgA1 (Gd-IgA1; autoantigen) and Gd-IgA1-specific IgG and IgA autoantibodies in serum obtained at time of transplant or native-kidney IgAN diagnosis (30 patients only). 28255003 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Urinary MMP-7 level outperformed (C statistic, 0.78) levels of urinary angiotensinogen (C statistic, 0.75), epidermal growth factor (C statistic, 0.75), kidney injury molecule 1 (C statistic, 0.68), and serum galactose-deficient IgA1 (C statistic, 0.59) for predicting IgAN progression. 31606236 2020
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE The genetic susceptibility to IgA nephropathy: a novel functional candidate gene for incomplete O-glycosylation of IgA1. 17315006 2007
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE High levels of aberrantly glycosylated IgA1 do not appear to play a strong crucial role in recurrence of IgAN. 17988266 2008
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Altogether, these data unveil a functional cooperation between pIgA1 and TfR for IgA1 deposition and HMC proliferation and activation, features that are commonly implicated in the chronicity of mesangial injuries observed in IgAN and that could explain the recurrence of IgA1 deposits in the mesangium after renal transplantation. 15987753 2005
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE The level of aberrantly glycosylated IgA1 was markedly higher in IgAN group compared to the other groups (P<0.0001). 25647400 2015
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Whereas progress has been made in understanding the glycosylation pathways of IgA1 O-linked glycans and binding galactose-deficient IgA1-complexes to mesangial cells, there is still no IgA nephropathy-specific therapy. 15202611 2004
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE Deficient glycosylation of O-linked glycans in the IgA1 hinge region is associated with IgA nephropathy in humans, but the pathogenic contribution of the underlying structural aberrations remains incompletely understood. 24511137 2014
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Our results give novel additional information on the abnormal O-glycosylation process of IgA1 in IgAN patients. 25744272 2015
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Analyses of serum IgA1 from IgAN patients revealed abnormal galactosylation of the O-linked carbohydrate moieties of IgA that may result from altered activity in the core of 1 b1,3-galactosyltransferase (C1GalT1). 26125729 2015
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE The preference for IgA1 is due to increased production of IgA1 per cell, and the absence of I alpha RNA indicates that additional defect(s) in immune regulation may play an important role in the pathogenesis of IgAN. 8973620 1996
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE This review will summarize the works on the genetics, the mucosal and systemic IgA immune response, mechanism of underglycosylation of IgA1, and the pathological effect of mesangial IgA deposition in IgAN. 21188648 2011
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE Median serum Gd-IgA1 levels were significantly higher in IgAN patients [13135.6(2723.3,59603.8)ng/ml] compared to those with non IgA glomerular disease [4954.8(892.9,18256.2) ng/ml] and healthy controls [6299.5(1993.2,19256) ng/ml] and this was observed even after log transformation and adjustment for age and gender(p<0.0001). 30917188 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE AMI can up-regulate Cosmc expression of peripheral B lymphocytes and reverse IgA1 aberrant O-glycosylation level, which might be the underlying mechanism of AMI therapy in treating IgAN. 24942185 2014