EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.620 GeneticVariation disease BEFREE Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.610 GeneticVariation disease BEFREE Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. 28456137 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.600 GeneticVariation disease BEFREE A case-control study was performed to study the genetic association between DR and polymorphic variants of EDN1 (Lys198Asn), LTA (IVS1-80C>A, IVS1-206G>C, IVS1-252A>G), eNOS (Glu298Asp), and ITGA2 (BgI II) in a Chinese population with type 2 diabetes mellitus. 18806884 2008
Diabetes Mellitus, Non-Insulin-Dependent
0.600 GeneticVariation disease BEFREE The object of the study was to investigate the share of the polymorphisms I/D ACE, endothelin 1 4127G/A and TNF-beta NcoI in the susceptibility to proliferative diabetic retinopathy (PDR) in non-insulin-dependent diabetes mellitus (NIDDM). 11399938 2001
Diabetes Mellitus, Non-Insulin-Dependent
0.600 GeneticVariation disease BEFREE PCR primers for highly polymorphic sites within the EDN1 and NOS3 genes were used to genotype individuals with type 1 or type 2 diabetes with severe or no retinopathy. 10450377 1999
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 GeneticVariation disease BEFREE Lower risk for heart failure with higher ET1 levels could not be clearly shown in a model including health behaviors. 31515065 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 GeneticVariation disease BEFREE A common endothelin-1 gene haplotype may be a pharmacogenetic predictor of a favorable clinical response to beta-blocker therapy in heart failure patients. 18953265 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 GeneticVariation disease BEFREE A common endothelin-1 gene haplotype may be a pharmacogenetic predictor of a favorable clinical response to beta-blocker therapy in heart failure patients. 18953265 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 GeneticVariation disease BEFREE Moreover, the frequency of endothelin-1 Lys198Asn polymorphism was investigated with respect to the prevalence of several actual or historical endorgan damages (renal disorder, coronary artery disease, vascular events, vascular damage, and congestive heart failure) in hypertensive patients. 18923236 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 GeneticVariation disease BEFREE The second objective is to find an association between polymorphisms G8002A and -3A/4A EDN-1 with diabetes mellitus (DM), peripheral artery disease (PAD) and myocardial infarction (MI) in patients with chronic heart failure (CHF). 18442814 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 GeneticVariation disease BEFREE The double heterozygote variants of two ET-1 gene polymorphisms were associated with significantly less risk for chronic heart failure with higher levels of big endothelin. 12565798 2002
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 GeneticVariation disease BEFREE Lower risk for heart failure with higher ET1 levels could not be clearly shown in a model including health behaviors. 31515065 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group LHGDN In summary, our results uncover a sex-specific protective effect of variation in the ET-1 gene on the progression of hypertension risk, and a SES-specific effect on risk of developing left ventricular hypertrophy in multiethnic youth. 15505112 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE The endothelin-1 G5665T single nucleotide polymorphism has been linked to increased vascular reactivity and hypertension. 18603063 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE The associations of the 5-HT2A T102C polymorphism with hypertension and diastolic blood pressure in ET-1 T allele carriers were significant (p = 0.0056 and 0.021, respectively). 16778329 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. 18288492 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE The purpose of this study was to investigate the role of endothelin-1 Lys198Asn polymorphism in patients with severe arterial hypertension as well as associated endorgan damages. 18923236 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE We assessed the correlation of 10 single-nucleotide polymorphisms (SNPs) in genes modulating angiogenesis (vascular endothelial growth factor-A (VEGF-A), VEGF receptor 1 (VEGFR-1), serine threonine kinase 39 (STK39)) or hypertension (endothelin-1 and uromodulin) with outcome and toxicity. 27139155 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group LHGDN Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension. 17444275 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE A gene polymorphism in EDN1, Lys198Asn, has been reported to be associated with hypertension in obese subjects. 17664854 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE Recently, two single nucleotide polymorphisms in EDN1 have been reported to be associated with hypertension: Lys198Asn and 3A/4A (-134delA) located in the 5'-untranslated region. 28692114 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE Our results indicated that the mechanisms of hypertension in AMA may differ from those in young individuals from the point of VEGF-endothelin-1 system. 31272714 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE We searched for EDN1 variants in 145 Spanish patients with an essential form of LVH (not secondary to hypertension, aortic stenosis, or any other disease that could explain the hypertrophy). 17335511 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE Moreover, in line with previous reports, this study revealed a significant interaction between the ET-1 K198N (G/T) polymorphism and BMI in association with hypertension in our populations (P=0.027). 12511547 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 GeneticVariation group BEFREE The Lys198Asn polymorphism of the endothelin-1 gene has been associated with increased blood pressure levels in several studies involving European and Australian adults. 12963677 2003