rs1799983, NOS3

N. diseases: 246
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ABLEPHARON-MACROSTOMIA SYNDROME
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
0.010 GeneticVariation BEFREE We tested the hypothesis that haplotypes, as determined by tagSNPs, in NOS3 would be differentially represented in individuals with and without AMS sampled at the Janai Purnima Festival at Lake Gosain Kunda, Nepal, at 4380 m. Seven SNPs were tested, and a highly significant association (p = 0.004) was found for genotypes of the commonly studied missense polymorphism Glu298Asp (rs 1799983; G/T transversion at base 894). 19775216 2009
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE The aim of our study was to evaluate the role of eNOS-786T > C, 894G > T and 4a/4b polymorphisms in modulating platelet phenotype in 1442 acute coronary syndrome (ACS) patients on dual antiplatelet therapy, previously investigated in relation to platelet function. 19891529 2009
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE Polymorphisms in the NOS3 gene (eNOS) -786T>C, 894G>T and intron 4 a/b VNTR can be associated with a higher susceptibility for ACS. 22475779 2012
Acute Coronary Syndrome
CUI: C0948089
Disease: Acute Coronary Syndrome
0.030 GeneticVariation BEFREE Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes. 14999203 2004
Acute Coronary Syndrome
CUI: C0948089
Disease: Acute Coronary Syndrome
0.030 GeneticVariation BEFREE Interaction between endothelial nitric oxide synthase gene polymorphisms (-786T>C, 894G>T and intron 4 a/b) and cardiovascular risk factors in acute coronary syndromes. 22475779 2012
Acute Coronary Syndrome
CUI: C0948089
Disease: Acute Coronary Syndrome
0.030 GeneticVariation BEFREE The aim of our study was to evaluate the role of eNOS-786T > C, 894G > T and 4a/4b polymorphisms in modulating platelet phenotype in 1442 acute coronary syndrome (ACS) patients on dual antiplatelet therapy, previously investigated in relation to platelet function. 19891529 2009
Acute hepatitis
CUI: C0267797
Disease: Acute hepatitis
0.010 GeneticVariation BEFREE Hence, the iNOS C150T polymorphism and the eNOS G894T polymorphism and high levels of iNOS and eNOS are associated with an increased risk of HEV-related acute hepatitis and liver failure. 24215170 2014
Acute mountain sickness
CUI: C0238284
Disease: Acute mountain sickness
0.010 GeneticVariation BEFREE Genotype at the missense G894T polymorphism (Glu298Asp) in the NOS3 gene is associated with susceptibility to acute mountain sickness. 19775216 2009
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.030 GeneticVariation BEFREE In contrast to previous reports, homozygosity for the Asp298 variant of the 894G>T polymorphism in the eNOS gene was not found to be associated with risk of AMI, extent of CAD and in-hospital mortality after AMI. 18495009 2008
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.030 GeneticVariation BEFREE To investigate the association of allelic variants produced by the G894T transversion in eNOS (rs1799983) with post-AMI variables. 26002446 2015
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.030 GeneticVariation BEFREE Recent reports have suggested that the Glu298Asp polymorphism in exon 7 of the endothelial nitric oxide synthase gene is associated with coronary spasm and acute myocardial infarction. 12243851 2002
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE In conclusion, our study showed that <i>eNOS</i> 894 G/T variants were significantly associated with EGFR mutation types of lung adenocarcinoma, specifically exon 19 in-frame deletion. 30026850 2018
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE The results obtained in our study suggest a potential role of the rs1800566, rs1799983 and rs6726395 polymorphisms in the AMD pathogenesis. 23276910 2013
Aggressive periodontitis, generalized
0.010 GeneticVariation BEFREE The present study showed that eNOS Glu298Asp polymorphism is associated with BOP in GAgP patients. 16881803 2006
Alcohol abuse
CUI: C0085762
Disease: Alcohol abuse
0.010 GeneticVariation BEFREE Genomic DNA from 103 patients with nontraumatic FHON (idiopathic in 50, steroid-induced in 29, and alcohol abuse in 24) and 103 control subjects matched for gender and age (3-year range) was analyzed for the 27-bp repeat polymorphism in intron 4 and Glu298Asp polymorphism in exon 7. 16779830 2006
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
0.010 GeneticVariation BEFREE This study investigated associations of 27 base-pair tandem repeat polymorphism in intron 4 and the Glu298Asp (G894T) variant of the NOS3 gene with atopic asthma in a Czech population. 12190658 2002
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.010 GeneticVariation BEFREE Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients. 15718036 2005
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.030 GeneticVariation BEFREE Recently a significant association of a missense mutation (Glu298Asp) of the endothelial nitric oxide synthase (NOS3) gene with late-onset Alzheimer's disease (LOAD) was reported. 11041283 2000
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.030 GeneticVariation BEFREE Association between NOS3 gene G894T polymorphism and late-onset Alzheimer disease in a sample from Iran. 20505439 2010
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.030 GeneticVariation BEFREE These results suggest that the NOS3 gene Glu298Asp polymorphism might be a risk factor for LOAD and dependent on APOE epsilon 4 status in Chinese. 18183499 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE This meta-analysis suggested that the NOS3 Glu298Asp gene polymorphism is not a strong risk factor for AD. 23952620 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients. 15718036 2005
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease. 12697290 2003
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Association between Alzheimer's disease and the NOS3 gene Glu298Asp polymorphism in Chinese. 18183499 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE The meta-analysis showed a small effect of the Glu298Asp</span> GG genotype on AD risk across all studies (summary odds ratio = 1.15, 95% confidence interval: 0.97-1.35) and significant heterogeneity of this association among studies (p = 0.02). 16813604 2006