Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 GeneticVariation group BEFREE We recently identified mutations in GALNT3 as the proximal cause of this metabolic disorder. 15900124 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 AlteredExpression group BEFREE We propose that glycosylation in tumor cell lines may be regulated in part by differential expression of GalNAc-transferases, and we suggest that GalNAc-T3 gene expression may be a molecular indicator of differentiated adenocarcinoma. 9354435 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE We propose that glycosylation in tumor cell lines may be regulated in part by differential expression of GalNAc-transferases, and we suggest that GalNAc-T3 gene expression may be a molecular indicator of differentiated adenocarcinoma. 9354435 1997
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 GeneticVariation disease BEFREE We have described HFTC and HHS in a consanguineous Caucasian family with a novel GALNT3 mutation, demonstrating new phenotypic features and significant variability in the natural course of the disease. 25249269 2014
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 GeneticVariation disease BEFREE We describe two children with HHS who were found to be homozygous for a mutation in GALNT3 encoding a peptide involved in mucin-type O-glycosylation (ppGaNTase-T3). 17129170 2007
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.020 AlteredExpression disease BEFREE We also found in our research that the bone mineral density of patients with osteoporosis significantly correlated with the expression levels of the GALNT3 gene (r=0.95). 30004557 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE We also explored ZEB2 and GALNT3 protein expression using the Human Protein Atlas dataset and, again, observed an inverse correlation in all analyzed tumor types, except malignant melanoma. 29516288 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Variant in GALNT3 Gene Linked with Reduced Coronary Artery Disease Risk in Chinese Population. 28453302 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE Variant in GALNT3 Gene Linked with Reduced Coronary Artery Disease Risk in Chinese Population. 28453302 2017
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 GeneticVariation phenotype LHGDN Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 17351710 2007
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 GeneticVariation disease BEFREE Two GALNT3 markers, rs13427924 and rs4621175, were significantly associated with CAD (odds ratio [OR] = 0.87, p = 1.01 × 10<sup>-3</sup> and OR = 0.75, p = 2.51 × 10<sup>-4</sup>, respectively), and the risk A allele of rs4621175 was associated with lower GALNT3 expression in both mRNA and protein level; also, A allele showed decreased reporter activity. 28453302 2017
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 GeneticVariation phenotype LHGDN Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 18618993 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Together our results highlight a novel mechanistic pathway connecting BRAFV600E to aberrant glycosylation in colorectal cancer through GALNT3. 29894293 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Together our results highlight a novel mechanistic pathway connecting BRAFV600E to aberrant glycosylation in colorectal cancer through GALNT3. 29894293 2018
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		0.010 Biomarker disease BEFREE To test the presence of the similar set point defect in ARHR, we generated 4- and 12-week-old Dmp1/Galnt3 double knockout mice and controls, including Dmp1 knockout mice (a murine model of ARHR), Galnt3 knockout mice (a murine model of familial tumoral calcinosis), and phenotypically normal double heterozygous mice. 28005411 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE Thus, substrate proteins of GalNAc-T3 should serve as important therapeutic targets for pancreatic cancers. 21625220 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE Through the analyses of primary tumor cDNA arrays and expO datasets a significant differential expression and a significant inverse correlation between ZEB2 and GALNT3 expression were detected in most of the tumors. 29516288 2018
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.480 GeneticVariation disease BEFREE This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. 19830424 2010
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 GeneticVariation disease BEFREE This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. 19830424 2010
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Therefore, our results reveal an important role of GALNT3 in regulating host responses during IAV infection, indicating the broad functions of the GALNT family, and the direct involvement of GALNTs during viral infections. 30100058 2018
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 Biomarker disease BEFREE Therefore, our results reveal an important role of GALNT3 in regulating host responses during IAV infection, indicating the broad functions of the GALNT family, and the direct involvement of GALNTs during viral infections. 30100058 2018
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 GeneticVariation disease BEFREE The present results expand the spectrum of known mutations in GALNT3 and demonstrate the existence of HFTC-causing mutations in this gene outside the Middle Eastern and African-American populations. 16528452 2006
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.380 GeneticVariation disease BEFREE The objective was to identify mutations in FGF23 or GALNT3 responsible for a mild TC phenotype by DNA sequencing and to determine serum FGF23 levels by ELISA. 16940445 2006
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE The low expression of GalNAc-T3 may be a useful marker for predicting poor prognosis and early recurrence in completely resected lung carcinoma patients, particularly patients with stage I diseases. 14735190 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype LHGDN The low expression of GalNAc-T3 was associated with poorly differentiated tumour (P<0.0001), poor pathologic stage (P<0.0001), lymph node metastasis (P<0.0001), and tumour recurrence (P=0.016). 14735190 2004