Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.110 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.110 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.110 Biomarker disease BEFREE Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. 26934567 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.110 Biomarker disease BEFREE Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. 26934567 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.110 GeneticVariation disease GWASDB A genome-wide association study of a coronary artery disease risk variant. 23364394 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.100 GeneticVariation phenotype GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
Platelet Component Distribution Width Measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of lung function decline in adults with and without asthma. 22424883 2012
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 GeneticVariation disease BEFREE Further study on expression level and relevant functional significance enables us to identify and conclude the following four novel variants, viz., c.416T>C (p.Phe139Ser) in SORD, c.1048_1049delGCinsCG (p.Ala350Arg) in KRT6A, c.1159G>T (p.Gly387Cys) in SVEP1, and c.430G>C (p.Gly144Arg) in MRPL38 as a critical genetic factor for liver cancer. 31272500 2019
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation disease BEFREE Further study on expression level and relevant functional significance enables us to identify and conclude the following four novel variants, viz., c.416T>C (p.Phe139Ser) in SORD, c.1048_1049delGCinsCG (p.Ala350Arg) in KRT6A, c.1159G>T (p.Gly387Cys) in SVEP1, and c.430G>C (p.Gly144Arg) in MRPL38 as a critical genetic factor for liver cancer. 31272500 2019
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 GeneticVariation disease BEFREE Further study on expression level and relevant functional significance enables us to identify and conclude the following four novel variants, viz., c.416T>C (p.Phe139Ser) in SORD, c.1048_1049delGCinsCG (p.Ala350Arg) in KRT6A, c.1159G>T (p.Gly387Cys) in SVEP1, and c.430G>C (p.Gly144Arg) in MRPL38 as a critical genetic factor for liver cancer. 31272500 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 GeneticVariation disease BEFREE The top association findings suggested that the BD risk alleles at SNP rs4765913 in CACNA1C gene and rs7042161 in SVEP1 may be associated with increased risk of 'cardiac dysrhythmias' (odds ratio (OR)=1.1, P=3.4 × 10(-3)) and 'essential hypertension' (OR=1.1, P=3.5 × 10(-3)), respectively. 27529678 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation group BEFREE Moreover, we present additional evidence supporting these associations, particularly the association of the SVEP1 SNP with hypertension. 27529678 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 GeneticVariation disease BEFREE Six out of twenty selected genes with largest expression difference (CYP1B1, GPT), genes linked to PCOS (RAB5B) or type 2 diabetes (PPARG, SVEP1), and methylation (DMAP1) were replicated in a separate case-control study. 26975253 2016