Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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 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: 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 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: 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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 GeneticVariation disease BEFREE Polymorphisms in the genes encoding ABO blood type, secretor or Lewis genotypes were not shown to associate with severity of CF lung disease, or age of onset of P. aeruginosa infection, nor was there any association with other clinical phenotypes in a group of 808 patients homozygous for the DeltaF508 mutation. 19169360 2009
CUI: C0014868
Disease: Esophagitis
Esophagitis 		0.020 GeneticVariation disease BEFREE HR-Manometry showed a similar reduction in the LES pressure and 4sIRP; 24-h pH-monitoring showed however an abnormal exposure to acid in 38.4% of POEM patients, as compared to 17.1% of LHD patients (p < 0.01) and esophagitis was found in 37.4% of the POEM and 15.2% of LHD patients (p < 0.05). 31848870 2020
CUI: C0009319
Disease: Colitis
Colitis 		0.010 GeneticVariation disease BEFREE Similar conclusions were drawn for the mutant allele (A) and genotype (GA+AA) of FUT3 (rs3745635) in patients with extensive colitis compared to those with distal colitis (P = 0.006, 95%CI: 0.553-0.845; P = 0.011, 95%CI: 0.621-0.900, respectively). 26766790 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 GeneticVariation disease BEFREE The frequencies of mutant allele (A) and genotype (GA+AA) in FUT3 (rs3745635) were higher in UC patients than controls (P = 0.016, 95%CI: 1.339-1.699; P = 0.038, 95%CI: 1.330-1.742, respectively). 26766790 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Previous studies have suggested a positive association between phenotypes of fucosyltransferase 3 (FUT3) gene (also known as Lewis gene) and coronary heart disease. 17383304 2007
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE Previous studies have suggested a positive association between phenotypes of fucosyltransferase 3 (FUT3) gene (also known as Lewis gene) and coronary heart disease. 17383304 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 GeneticVariation disease BEFREE Our study aimed to analyze associations of CD with FUT2 and FUT3 polymorphisms in Chinese population. 24720527 2014
CUI: C0018834
Disease: Heartburn
Heartburn 		0.010 GeneticVariation phenotype 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: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.010 GeneticVariation phenotype BEFREE The Screen for Gambling Problems (NODS), Quality of Life Enjoyment and Satisfaction (Q-LES-Q), Impulsive Behavior Scale (UPPS-P), Sheehan Disability Inventory (SDI), Beck Depression Inventory (BDI) and State-Trait Anxiety Inventory (STAI) were administered pre- and posttreatment. 29353301 2018
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 GeneticVariation disease BEFREE We investigated the effect of inactivating mutations in the secretor FUT2 (rs601338) and Lewis FUT3 genes (rs28362459, rs3894326, rs812936 and rs778986) on serum IgG antibody titers and neutralizing antibody titers to rotavirus strains of the P[8] and P[6] genotypes in Swedish healthy blood donors and patients with IgA deficiency using genotyping, enzyme linked immunosorbent assay and a neutralization assay. 26454189 2016
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 GeneticVariation disease BEFREE FUT2 and FUT3 genotype determines CA19-9 cut-off values for detection of cholangiocarcinoma in patients with primary sclerosing cholangitis. 23958938 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 GeneticVariation disease BEFREE Lewis genotypes were determined in a large cohort of patients with pancreatic cancer (682 cases) and controls (525 cases) by sequencing the Fucosyltransferase 3 (FUT3) gene from genomic DNA. 28267695 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 GeneticVariation disease BEFREE Lewis genotypes were determined in a large cohort of patients with pancreatic cancer (682 cases) and controls (525 cases) by sequencing the Fucosyltransferase 3 (FUT3) gene from genomic DNA. 28267695 2017
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		0.010 GeneticVariation disease BEFREE FUT2 and FUT3 genotype determines CA19-9 cut-off values for detection of cholangiocarcinoma in patients with primary sclerosing cholangitis. 23958938 2013