Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). 26305897 2015
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation disease BEFREE Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention. 30768153 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation disease BEFREE Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. 31228190 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation disease BEFREE Genetic alterations of the GUCY1A3 gene, which encodes the α1 subunit of the sGC, are associated with coronary artery disease. 27342234 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 GeneticVariation disease BEFREE Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. 26777256 2016