Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. 24763700 2014
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? 23844046 2013
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.100 GeneticVariation phenotype GWASDB Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. 18439552 2008
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASCAT Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. 18439552 2008
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		0.100 GeneticVariation phenotype GWASDB Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASCAT Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		0.100 GeneticVariation phenotype GWASDB Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		0.100 GeneticVariation disease CLINVAR
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 GeneticVariation disease BEFREE In the current study, locus C12orf43/rs2258287 was found to be associated with the risk of CAD in the studied Pakistani cohort (OR 0.18; CI 0.08-0.37; p = 0.0001) while no association was observed for MRAS/rs9818870 (OR 1.34; CI 0.65-2.76; p = 0.42). 27263109 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 GeneticVariation disease BEFREE We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11). 19198612 2009
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort. 27263109 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort. 27263109 2016