Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.100 GeneticVariation phenotype GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation disease GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.050 Biomarker phenotype BEFREE Inflammation and tumorigenesis in GEC C1galt1-/- stomach were concurrent with activation of caspases 1 and 11 (Casp1/11)-dependent inflammasome. 31645367 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Core 1 β1,3-galactosyltransferase (C1GALT1) controls the crucial step of GalNAc-type O-glycosylation and is overexpressed in various human malignancies. 29930379 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Furthermore, galectin-4 engaged with C1GALT1-dependent O-glycans to promote castration resistance and metastasis by activating receptor tyrosine kinase signaling and cancer cell stemness properties mediated by SRY-box 9 (SOX9). 29906246 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE Here we demonstrate that C1GALT1 expression is upregulated in HNSCC tumors and is associated with adverse clinicopathologic features. 29930379 2018