C1GALT1C1, C1GALT1 specific chaperone 1, 29071

N. diseases: 25; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 Biomarker group BEFREE The proteins BAFF, ST6GALNAC2, C1GALT1, and COSMC in peripheral blood mononuclear cells (PBMCs) and plasma levels of IgA1 and galactose-deficient IgA1 (Gd-IgA1) are potential biomarkers for IgAN nephropathy. 27465795 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Aberrant Cosmc genes result in Tn antigen expression in human colorectal carcinoma cell line HT-29. 26045765 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation group BEFREE The Tn antigen, which arises from mutation in the Cosmc gene is one of the most common tumor associated carbohydrate antigens. 26045765 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 Biomarker disease BEFREE COSMC knockdown mediated aberrant O-glycosylation promotes oncogenic properties in pancreatic cancer. 26021314 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 Biomarker disease BEFREE COSMC knockdown mediated aberrant O-glycosylation promotes oncogenic properties in pancreatic cancer. 26021314 2015
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 AlteredExpression disease BEFREE Since the role of Tn antigen expression in PDAC is insufficiently understood we analyzed the impact of COSMC mediated Tn antigen expression in two human PDAC cell lines on cellular oncogenic properties. 26021314 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE (3) We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4) we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. 25479423 2014
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 Biomarker disease BEFREE (3) We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4) we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. 25479423 2014
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 Biomarker disease BEFREE (3) We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4) we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. 25479423 2014
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.010 AlteredExpression disease BEFREE In this study, immunohistochemistry showed that COSMC was upregulated in proliferating hemangiomas compared with involuted hemangiomas. 23424651 2013
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin
0.010 Biomarker disease BEFREE However, roles of COSMC in infantile hemangioma are still unclear. 23424651 2013
CUI: C4317089
Disease: Infantile hemangioma
Infantile hemangioma
0.010 Biomarker disease BEFREE However, roles of COSMC in infantile hemangioma are still unclear. 23424651 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 GeneticVariation group LHGDN 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