Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Low density lipoprotein cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 GeneticVariation group BEFREE Tumor-associated FUT3 promoter polymorphism rs2306969 (-6951 C> T, position related to the gene's translation start site) has been linked to breast, ovarian and intestinal gastric cancer. 30929162 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 AlteredExpression group BEFREE Comparison of paired primary tumors/lymph node metastases revealed an increase of prolectin staining in metastasis and high FUT1 and FUT3 mRNA expression was associated with poor prognosis. 26908442 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 GeneticVariation group BEFREE CA19-9 showed strong immunopositivity in most of the tumors (91.3%), and mutated enzyme FUT3 was demonstrated from the cases showing negative or weak staining. 27038681 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 AlteredExpression group BEFREE The non-expression of FUT3 was more frequent in larger lesions and also in HER2 negative IDC tumors. 26321244 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE Tumor necrosis factor-α (TNF-α) up-regulates FucT-III, resulting in increased sLeX in the airways of patients with respiratory disease; however, the mechanisms that regulate sLeX in the inflammatory tumor microenvironment are not well understood. 21437888 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 AlteredExpression group BEFREE Together, our observations point to a tumor induced transcription of endothelial FUT1 and consequently an enhanced expression of CD174 which is involved in migration and early cell-cell contacts during tumor associated angiogenesis. 18205178 2008
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.050 GeneticVariation disease BEFREE The majority of patients who undergo a laparoscopic fundoplication for gastroesophageal reflux disease (GERD) have a structural (hiatal hernia, shortened lower esophageal sphincter [LES]) or functional (weak LES) defect of the gastroesophageal junction (GEJ). 31214803 2020
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.050 GeneticVariation disease BEFREE Numerous studies demonstrate that POEM produces comparable, if not superior, results compared to standard laparoscopic Heller myotomy (LHM), as determined by LES pressure, dysphagia frequency, Eckardt score, hospital length of stay, therapy durability, and incidence of GERD. 31451984 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 Biomarker phenotype BEFREE FUT3-fucosylated glycoconjugates play key roles in pathways involved in tumor biology and metastasis, such as cellular ligation to E-selectins, TGF-β-induced epithelial-mesenchymal transition, NK cell-mediated tumor cytotoxicity and apoptosis. 30929162 2019
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.050 Biomarker disease BEFREE The resting LES pressure was 8.9±5.94 mmHg with GER symptoms, 16.4±12.79 mmHg without GER symptoms, and 26.8±14.03 mmHg with achalasia. 29915812 2018
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.050 Biomarker disease BEFREE Gastro-esophageal reflux disease (GERD) may occur post-achalasia intervention due to disruption of the LES and therefore requires diligent follow-up, especially in children treated with POEM. 29439587 2018
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.050 GeneticVariation disease BEFREE There was a prevalence of acid reflux at both sphincters (p<0.0001); liquid reflux was prevalent at the LES (p=0.003) and mixed reflux at the UES (p=0.0001). 29307652 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 AlteredExpression phenotype BEFREE Comparison of paired primary tumors/lymph node metastases revealed an increase of prolectin staining in metastasis and high FUT1 and FUT3 mRNA expression was associated with poor prognosis. 26908442 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 Biomarker phenotype BEFREE E-selectin knockdown in EC-Bcl-2 cells or FAK/FUT3 knockdown in tumor cells significantly reversed EC-Bcl-2-mediated tumor metastasis. 26509633 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 Biomarker phenotype BEFREE Fucosylated glycans synthesized by α1,3/4-fucosyltransferase (FUT3) enzyme play an important role in breast cancer prognosis and metastasis, being involved in the binding of circulating tumor cells to the endothelium and being related to tumor stage, metastatic potential and chemoresistance. 26321244 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 Biomarker phenotype LHGDN Studies on mechanism of Sialy Lewis-X antigen in liver metastases of human colorectal carcinoma. 11819805 2001
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.040 Biomarker disease BEFREE Increased lower esophageal sphincter integrated relaxation pressure (LES-IRP) is a cardinal feature of achalasia. 30153516 2019
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.040 Biomarker disease BEFREE Yet, some patients exhibit clinical features of achalasia despite normal IRP and have LES dysfunction demonstrable by other means. 30957312 2019
CUI: C1321756
Disease: Achalasia
Achalasia
0.040 Biomarker disease BEFREE Yet, some patients exhibit clinical features of achalasia despite normal IRP and have LES dysfunction demonstrable by other means. 30957312 2019