Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE GM130 expression was significantly decreased in tonsil tissues and PBMC of IgAN patients; the expression of C1GALT1 decreased and Gd-IgA1 level increased significantly in patients with IgAN patients. 30917363 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE The rs1047763 SNP of the C1GALT1 gene probably has no correlation with genetic susceptibility to IgAN in Xinjiang Uyghur people. 26782518 2015
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE Association between C1GALT1 variants and genetic susceptibility to IgA nephropathy in Uygur. 26125729 2015
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE Our previous study has shown a potential interaction of C1GALT1-330G/T and IL5RA31 + 197A/G on the susceptibility of IgAN in Southern Han Chinese. 24271554 2014
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Interaction of C1GALT1-IL5RA on the susceptibility to IgA nephropathy in Southern Han Chinese. 23190752 2013
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). 22131235 2012
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE Conversely, loss of miR-148b function in PBMCs of patients with IgA nephropathy increased C1GALT1 mRNA and protein levels to those observed in healthy persons. 22362909 2012
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE Our findings suggest that potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. 19357720 2009
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 AlteredExpression disease BEFREE Although decreased C1GALT1 activity has been implicated in the IgAN pathogenesis and cosmc chaperone mutations can cause autoimmune disease, our data provide no evidence for a relevant role of cosmc gene mutations in European patients with sporadic or familial IgAN. 18840896 2009
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE To evaluate the association between C1GalT1 single nucleotide polymorphisms (SNPs) and IgAN, we performed a case control study on cohorts from the Italian population. 19229831 2009
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE IgA(1) aberrant O-glycosylation is one of the main pathogeneses of IgA nephropathy (IgAN), and the core I beta3-Gal-T-specific molecular chaperone (Cosmc) mRNA expression of IgAN patients was significantly decreased. 18202089 2008
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 GeneticVariation disease BEFREE A case-control association study was performed to investigate the association between single-nucleotide polymorphisms (SNPs) of C1GALT1 and C1GALT1C1 genes and the susceptibility to IgAN. 17228361 2007
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE Although underglycosylation was reported to be an acquired abnormality, genes for enzymes of O-glycosylation, such as C1GALT1, may be responsible for susceptibility to IgA nephropathy. 17315006 2007
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.100 Biomarker disease BEFREE The current study was carried out to elucidate the expression level of beta1,3GT (C1GALT1) and its chaperone (Cosmc) in IgAN, and their relationships with clinical features as well as IgA glycosylation level. 16238683 2005