|
Tn Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Tn Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Genetics of IgA Nephropathy: An Overview from Western Countries.
|
27536663 |
2015 |
|
Tn Syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
New mutations in C1GALT1C1 in individuals with Tn positive phenotype.
|
18537974 |
2008 |
|
Tn Syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Protein glycosylation: chaperone mutation in Tn syndrome.
|
16251947 |
2005 |
|
Tn Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Tn Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
TN POLYAGGLUTINATION SYNDROME, SOMATIC
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
The Genetics of IgA Nephropathy: An Overview from Western Countries.
|
27536663 |
2015 |
|
Autoimmune state
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of red blood cells
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Somatic mutation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
IGA Glomerulonephritis
|
0.070 |
AlteredExpression
|
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 |
|
IGA Glomerulonephritis
|
0.070 |
PosttranslationalModification
|
disease |
BEFREE |
We aimed to investigate whether the methylation of CpG islands of Cosmc gene promoter region could act as a possible mechanism responsible for down-regulation of Cosmc and related higher secretion of aberrantly glycosylated IgA1in lymphocytes from children with IgA nephropathy.
|
25647400 |
2015 |
|
IGA Glomerulonephritis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Despite our extensive genomic analysis, the data revealed no functionally relevant cosmc gene variants in sporadic or familial IgAN cases.
|
18840896 |
2009 |
|
IGA Glomerulonephritis
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The patients with different genotypes of C1GALT1C1 gene did not significantly associate with clinical manifestations, including hematuria, proteinuria, and serum creatinine of patients with IgAN.
|
19778426 |
2009 |
|
IGA Glomerulonephritis
|
0.070 |
PosttranslationalModification
|
disease |
BEFREE |
External suppression causes the low expression of the Cosmc gene in IgA nephropathy.
|
18202089 |
2008 |
|
IGA Glomerulonephritis
|
0.070 |
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 |
|
IGA Glomerulonephritis
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
B-lymphocyte Cosmc gene expression level was significantly lower in IgAN patients than that of normal control and non-IgAN patients (P<0.05), whilst no apparent disparity was observed in C1GALT1 expression level.
|
16238683 |
2005 |
|
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Nevertheless, the 237CART cell reactivities remained cancer specific because all recognitions were dependent on the Tn glycosylation that resulted from COSMC mutations that were not present in normal tissues.
|
31672936 |
2019 |
|
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Nevertheless, the 237CART cell reactivities remained cancer specific because all recognitions were dependent on the Tn glycosylation that resulted from COSMC mutations that were not present in normal tissues.
|
31672936 |
2019 |
|
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The biosynthesis of the sTn antigen has been linked to the expression of the sialytransferase ST6GalNAc1, and also to mutations in and loss of heterozygosity of the COSMC gene. sTn neo- or over-expression occurs in many types of epithelial cancer including gastric, colon, breast, lung, oesophageal, prostate and endometrial cancer. sTn is believed to be carried by a variety of glycoproteins and may influence protein function and be involved in tumour development.
|
26927062 |
2016 |
|
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The biosynthesis of the sTn antigen has been linked to the expression of the sialytransferase ST6GalNAc1, and also to mutations in and loss of heterozygosity of the COSMC gene. sTn neo- or over-expression occurs in many types of epithelial cancer including gastric, colon, breast, lung, oesophageal, prostate and endometrial cancer. sTn is believed to be carried by a variety of glycoproteins and may influence protein function and be involved in tumour development.
|
26927062 |
2016 |
|
Colonic Neoplasms
|
0.020 |
GeneticVariation
|
group |
LHGDN |
Absence of COSMC gene mutations in breast and colorectal carcinomas.
|
18321367 |
2008 |
|
Colonic Neoplasms
|
0.020 |
AlteredExpression
|
group |
LHGDN |
Human tumor antigens Tn and sialyl Tn arise from mutations in Cosmc.
|
18339842 |
2008 |
|
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of COSMC was lower in tumor tissues than in normal tissues and inhibited HCC migration in cells.
|
31471227 |
2019 |
|
Malignant neoplasm of endometrium
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The biosynthesis of the sTn antigen has been linked to the expression of the sialytransferase ST6GalNAc1, and also to mutations in and loss of heterozygosity of the COSMC gene. sTn neo- or over-expression occurs in many types of epithelial cancer including gastric, colon, breast, lung, oesophageal, prostate and endometrial cancer. sTn is believed to be carried by a variety of glycoproteins and may influence protein function and be involved in tumour development.
|
26927062 |
2016 |