Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.100 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 GeneticVariation disease BEFREE Rates were lower in studies that excluded patients with healthcare-associated (but community-onset) pneumonia (HCAP; median = 2003 vs 1286; P = 0.02) or immunocompromising conditions (median = 1895 vs 1409; P = 0.27) compared to those that did not. 31843272 2020
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 Biomarker disease BEFREE Commonly-applied exclusion criteria (eg, persons with HCAP or immunocompromising conditions) or restrictive case definitions (eg, only including pneumonias coded in the primary diagnosis position) have led to systematic underestimation of CAP incidence in many previous studies. 31843272 2020
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		0.010 Biomarker disease BEFREE Commonly-applied exclusion criteria (eg, persons with HCAP or immunocompromising conditions) or restrictive case definitions (eg, only including pneumonias coded in the primary diagnosis position) have led to systematic underestimation of CAP incidence in many previous studies. 31843272 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 AlteredExpression group BEFREE Because hCE1 is critical for the activation of imidapril, an angiotensin-converting enzyme (ACE)-inhibitor prodrug prescribed to treat hypertension, the most potent inhibitors, TPHP and 4tBPDPP, and an environmentally relevant mixture (house dust) were further evaluated for their effect on imidapril bioactivation in vitro. 31268531 2019
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder) 		0.010 Biomarker disease BEFREE The L proteins of rhabdoviruses, such as vesicular stomatitis virus (VSV) and rabies virus (RABV), possess an unconventional mRNA capping enzyme (GDP polyribonucleotidyltransferase, PRNTase) domain with a loop structure protruding into an active site cavity of the RNA-dependent RNA polymerase (RdRp) domain. 30395342 2019
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 Biomarker disease BEFREE The associations between mTD progression rate and HCE and other ocular/systemic parameters including age, Goldmann applanation tonometry based-intraocular pressure [GAT-IOP], and corneal hysteresis [CH] from the Ocular Response Analyzer (ORA®, Reichert) were investigated using the linear mixed model. 30240430 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We found that patients with HCE (n=287, 37.4%) had a significantly higher incidence of poorly differentiated PC (Gleason score ≥7b, 81.1% vs. 4.9%), advanced local tumor stage (≥pT3, 57.7% vs. 22.2%), and nodal involvement (19.8% vs. 1.6%). 28445145 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE However, useful determinants for predicting hard clinical events (HCE: death, nonfatal myocardial infarction, and stroke) in the setting of routinely-performed-angiographic follow-up have yet to be elucidated. 27431006 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE We found that patients with HCE (n=287, 37.4%) had a significantly higher incidence of poorly differentiated PC (Gleason score ≥7b, 81.1% vs. 4.9%), advanced local tumor stage (≥pT3, 57.7% vs. 22.2%), and nodal involvement (19.8% vs. 1.6%). 28445145 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE We found that patients with HCE (n=287, 37.4%) had a significantly higher incidence of poorly differentiated PC (Gleason score ≥7b, 81.1% vs. 4.9%), advanced local tumor stage (≥pT3, 57.7% vs. 22.2%), and nodal involvement (19.8% vs. 1.6%). 28445145 2017
CUI: C3272265
Disease: Three Vessel Coronary Disease
Three Vessel Coronary Disease 		0.010 Biomarker disease BEFREE Prediction of HCE in patients with TVD following PCI was more accurate with CSS than with SS. 27431006 2017
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 GeneticVariation disease BEFREE The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. 17900295 2007
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation disease BEFREE The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. 17900295 2007
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 GeneticVariation disease BEFREE The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. 17900295 2007