NOS3, nitric oxide synthase 3, 4846

N. diseases: 706; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 Biomarker disease BEFREE GLA-deficient EA.hy926 cells were obtained by siRNA knockdown of GLA expression and by mutation of GLA with CRISPR/Cas9 gene editing to investigate the effects of GLA deficiency on eNOS. 30413389 2018
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 GeneticVariation disease BEFREE Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment. 27813552 2016
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 GeneticVariation disease BEFREE Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. 18941922 2008
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 GeneticVariation disease BEFREE Therefore, eNOS gene polymorphism represent a frequent risk factor for vascular abnormalities in CHD, HT and Fabry's disease, afflictions which have in common, the endothelial dysfunction. 15784171 2005
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 GeneticVariation disease BEFREE To the best of our knowledge, this is the first report showing an influence of eNOS gene polymorphisms in patients with Fabry's disease. 12121349 2002
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.050 GeneticVariation disease LHGDN To the best of our knowledge, this is the first report showing an influence of eNOS gene polymorphisms in patients with Fabry's disease. 12121349 2002