Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE GALNT3 knockdown was also accompanied with increase of the cell adhesion molecules β-catenin and E-cadherin, which are normally suppressed by MUC1 in cancer, thus supporting the role of the GALNT3-MUC1 axis in EOC invasion. 24504219 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE GALNT3 knockdown was also accompanied with increase of the cell adhesion molecules β-catenin and E-cadherin, which are normally suppressed by MUC1 in cancer, thus supporting the role of the GALNT3-MUC1 axis in EOC invasion. 24504219 2014
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.480 AlteredExpression disease BEFREE Galnt3 knockout mice had increased proteolytic cleavage of Fgf23, leading to low circulating intact Fgf23 levels with consequent hyperphosphatemia. 28005411 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE HHS is a 3-hour culturally tailored, theory-based, multimedia stroke literacy intervention targeting school children, which systematically empowers children to share stroke information with parents. 29567762 2018
CUI: C0858004
Disease: Influenza A virus infection
Influenza A virus infection 		0.010 Biomarker disease BEFREE GALNT3 inhibits NF-κB signaling during influenza A virus infection. 30100058 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 18982401 2009
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.380 GeneticVariation disease BEFREE A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 18982401 2009
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 GeneticVariation disease BEFREE A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 18982401 2009
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 18982401 2009
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.480 Biomarker disease CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 Biomarker phenotype CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.380 Biomarker disease CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0521174
Disease: Microcalcification
Microcalcification 		0.300 Biomarker phenotype CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE A low expression of GalNAc-T3 was detected in the cytoplasm of tumour cells in 79 of 148 patients (53.4%) with lung adenocarcinoma. 14735190 2004
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 Biomarker disease MGD A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. 22912827 2012
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease MGD A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. 22912827 2012
CUI: C0477548
Disease: Other chondrocalcinosis
Other chondrocalcinosis 		0.200 Biomarker disease MGD A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. 22912827 2012
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		0.200 Biomarker disease MGD A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. 22912827 2012
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 CausalMutation disease CLINVAR A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 15687324 2005
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 GeneticVariation disease BEFREE A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 18322299 2008
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.040 AlteredExpression disease BEFREE A previous study from our group demonstrated that one member of this family (GALNT3) is overexpressed in epithelial ovarian cancer (EOC), and GALNT3 expression correlated with shorter progression-free survival (PFS) in EOC patients with advanced disease. 29039611 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.040 AlteredExpression disease BEFREE A previous study from our group demonstrated that one member of this family (GALNT3) is overexpressed in epithelial ovarian cancer (EOC), and GALNT3 expression correlated with shorter progression-free survival (PFS) in EOC patients with advanced disease. 29039611 2017
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 Biomarker disease MGD Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. 19213845 2009
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.800 Biomarker disease MGD Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. 19213845 2009
CUI: C0477548
Disease: Other chondrocalcinosis
Other chondrocalcinosis 		0.200 Biomarker disease MGD Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. 19213845 2009