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 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: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		0.120 CausalMutation disease CLINVAR
CUI: C1832662
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Dysfunctional nitric oxide signalling increases risk of myocardial infarction. 24213632 2013
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE Here, we report that 2 of 9 human glioma cell lines, CCF-STTG1 and U-87MG, overproduced cyclic GMP (cGMP) and showed increased expression of both or either subunits of soluble GC1, GUCY1A3 and GUCY1B3. 15201957 2004
CUI: C3810403
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 		0.700 Biomarker disease CTD_human
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: 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: 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: 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 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 Biomarker group HPO
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 Biomarker disease CTD_human Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.300 Biomarker disease CTD_human Global gene expression analysis of rat colon cancers induced by a food-borne carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 15059925 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker group CTD_human Global gene expression analysis of rat colon cancers induced by a food-borne carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 15059925 2004
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		0.300 Biomarker group CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.300 Biomarker phenotype CTD_human Dysfunctional nitric oxide signalling increases risk of myocardial infarction. 24213632 2013
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Dysfunctional nitric oxide signalling increases risk of myocardial infarction. 24213632 2013
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.300 Biomarker disease CTD_human α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders. 25373139 2014
CUI: C0340552
Disease: High altitude pulmonary hypertension
High altitude pulmonary hypertension 		0.300 Biomarker disease CTD_human α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders. 25373139 2014
CUI: C4016144
Disease: MOYAMOYA 6 WITH ACHALASIA
MOYAMOYA 6 WITH ACHALASIA 		0.300 Biomarker phenotype GENOMICS_ENGLAND Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 26777256 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.200 Biomarker disease MGD Soluble guanylate cyclase α1-deficient mice: a novel murine model for primary open angle glaucoma. 23527308 2013