Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE The MS profiling by PGC-LC also revealed several glycan structural isomers that corresponded to LacdiNAc-type (GalNAcβ1-4GlcNAc) motifs that were unique to the serous ovarian cancers and that correlated with elevated gene expression of B4GALNT3 and B4GALNT4 in patients with serous cancer. 28853212 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE The MS profiling by PGC-LC also revealed several glycan structural isomers that corresponded to LacdiNAc-type (GalNAcβ1-4GlcNAc) motifs that were unique to the serous ovarian cancers and that correlated with elevated gene expression of B4GALNT3 and B4GALNT4 in patients with serous cancer. 28853212 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE However, the role of B4GALNT3 in cancer stemness remains unclear. 25003232 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE However, the role of B4GALNT3 in cancer stemness remains unclear. 25003232 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE The MS profiling by PGC-LC also revealed several glycan structural isomers that corresponded to LacdiNAc-type (GalNAcβ1-4GlcNAc) motifs that were unique to the serous ovarian cancers and that correlated with elevated gene expression of B4GALNT3 and B4GALNT4 in patients with serous cancer. 28853212 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 GeneticVariation disease BEFREE New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma. 25803323 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Knockdown of B4GALNT3 using small interfering (si) RNAs in colon cancer cell lines (HCT116, SW480, HCT15, and HT29 cells) decreased sphere formation and the expression of stem cell markers, OCT4 and NANOG. 25003232 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE We found that B4GALNT3 expression was positively correlated with advanced stages and poor survival in colorectal cancer patients. 25003232 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Knockdown of B4GALNT3 using small interfering (si) RNAs in colon cancer cell lines (HCT116, SW480, HCT15, and HT29 cells) decreased sphere formation and the expression of stem cell markers, OCT4 and NANOG. 25003232 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE In addition, EGF-induced migration and invasion were significantly suppressed by B4GALNT3 knockdown. 25003232 2014
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE We found that B4GALNT3 expression was positively correlated with advanced stages and poor survival in colorectal cancer patients. 25003232 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE Reflecting B4GALNT3 mRNA presence in OA chondrocytes, LacdiNAc-terminated structures were detected. 24289744 2013