Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention. 30768153 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 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
0.450 GeneticVariation disease BEFREE The GUCY1A3 gene encoding the α<sub>1</sub> subunit of the soluble guanylyl cyclase (sGC) resides at one of these loci and has been strongly associated with blood pressure and CAD risk. 29601927 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. 31228190 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.430 GeneticVariation group BEFREE α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders. 25373139 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.430 GeneticVariation group GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.430 GeneticVariation group BEFREE Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 26777256 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.340 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.340 GeneticVariation disease BEFREE Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention. 30768153 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.340 GeneticVariation disease BEFREE Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. 31228190 2019
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.120 GeneticVariation disease BEFREE Mutations in GUCY1A3 have been recently linked to a recessive syndromic form of moyamoya with esophageal achalasia. 30001348 2018
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.120 GeneticVariation disease BEFREE Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. 26777256 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.120 GeneticVariation disease BEFREE We investigated whether homozygotes of the GUCY1A3 rs7692387 risk (G) allele benefited from aspirin in two long-term, randomized placebo-controlled trials of aspirin in primary CVD prevention: the Women's Genome Health Study (WGHS, N = 23 294) and a myocardial infarction (MI, N = 550) and stroke (N = 382) case-control set from the Physician's Health Study (PHS, N = 22 071). 31228190 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.120 GeneticVariation disease GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
0.120 GeneticVariation disease BEFREE Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. 26777256 2016
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
0.120 GeneticVariation disease BEFREE The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities. 27128593 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.110 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.110 GeneticVariation group BEFREE In two randomized placebo-controlled trials in the setting of primary prevention, aspirin reduced the incidence of CVD events in individuals homozygous for the GUCY1A3 risk (G) allele, whereas heterozygote individuals had more events when taking aspirin. 31228190 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.110 GeneticVariation group BEFREE We investigated whether homozygotes of the GUCY1A3 rs7692387 risk (G) allele benefited from aspirin in two long-term, randomized placebo-controlled trials of aspirin in primary CVD prevention: the Women's Genome Health Study (WGHS, N = 23 294) and a myocardial infarction (MI, N = 550) and stroke (N = 382) case-control set from the Physician's Health Study (PHS, N = 22 071). 31228190 2019
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
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