Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		0.700 Biomarker disease GENOMICS_ENGLAND Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 26777256 2016
CUI: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		0.700 GermlineCausalMutation disease ORPHANET Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. 24581742 2014
CUI: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		0.700 CausalMutation disease CLINVAR
CUI: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		0.700 Biomarker disease CTD_human
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 BEFREE Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. 31228190 2019
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 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 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 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 Biomarker disease BEFREE GUCY1A3, encoding the α1 subunit, was identified as a risk gene for coronary artery disease and myocardial infarction, but its specific contribution to atherosclerosis remains unclear. 27315776 2016
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 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 Biomarker disease CTD_human Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.430 Biomarker group BEFREE Notch signaling thus provides a constitutive drive on expression of the major nitric oxide receptor (GUCY1A3/GUCY1B3) in arteries from mice, rats, and humans, and this control mechanism is disturbed in hypertension. 28465505 2017
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: 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 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 Biomarker group CTD_human Gender-specific hypertension and responsiveness to nitric oxide in sGCalpha1 knockout mice. 18339647 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.430 Biomarker group HPO
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.340 Biomarker disease BEFREE GUCY1A3, encoding the α1 subunit, was identified as a risk gene for coronary artery disease and myocardial infarction, but its specific contribution to atherosclerosis remains unclear. 27315776 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