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 Biomarker disease BEFREE In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. 28328130 2017
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.620 GermlineCausalMutation disease ORPHANET These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. 24268655 2013
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: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.620 Biomarker disease CTD_human
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.620 Biomarker disease GENOMICS_ENGLAND
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
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.610 Biomarker disease GENOMICS_ENGLAND 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 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.610 Biomarker disease CTD_human
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 Biomarker disease BEFREE Endothelin 1 Is Associated with Heart Failure Hospitalization and Long-Term Mortality in Patients with Heart Failure with Preserved Ejection Fraction and Pulmonary Hypertension. 31514181 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 Biomarker disease BEFREE Endothelin-1 has been studied as a predictor of and prognostic marker in coronary artery disease, myocardial infarction, and heart failure. 30765295 2020
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: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 Biomarker disease BEFREE Endothelin 1 Is Associated with Heart Failure Hospitalization and Long-Term Mortality in Patients with Heart Failure with Preserved Ejection Fraction and Pulmonary Hypertension. 31514181 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 Biomarker disease BEFREE Endothelin-1 has been studied as a predictor of and prognostic marker in coronary artery disease, myocardial infarction, and heart failure. 30765295 2020
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 Biomarker group BEFREE We assessed the role of endothelin-1, acting through endothelin A (ET<sub>A</sub> ) receptors, in modulating the central and peripheral cardiovascular responses to exercise in patients with hypertension via local antagonism of these receptors during exercise. 31705661 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 AlteredExpression group BEFREE Opposite alterations of endothelin-1 in lung and pulmonary artery mirror gene expression of bone morphogenetic protein receptor 2 in experimental pulmonary hypertension. 31012341 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 Biomarker group BEFREE Endothelin 1 Is Associated with Heart Failure Hospitalization and Long-Term Mortality in Patients with Heart Failure with Preserved Ejection Fraction and Pulmonary Hypertension. 31514181 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.600 Biomarker disease BEFREE Individuals with T2DM show a misbalance between the synthesis, release, and biological actions of vasodilators and vasoconstrictors such as nitric oxide and endothelin-1. 30849412 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 Biomarker disease BEFREE Therefore, targeting the EC-Foxp1-TGF-β1-endothelin-1 pathway might provide a future novel therapy for heart failure. 31177814 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.600 Biomarker disease BEFREE These results revealed that TCDD directly induces cardiotoxicity in the postnatal period represented by progressive hypertrophy in which ANP, β-MHC, and ET-1 have potentials to mediate the cardiac hypertrophy and heart failure. 31270306 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 Biomarker disease BEFREE Therefore, targeting the EC-Foxp1-TGF-β1-endothelin-1 pathway might provide a future novel therapy for heart failure. 31177814 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.600 Biomarker disease BEFREE These results revealed that TCDD directly induces cardiotoxicity in the postnatal period represented by progressive hypertrophy in which ANP, β-MHC, and ET-1 have potentials to mediate the cardiac hypertrophy and heart failure. 31270306 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 Biomarker group BEFREE Endothelin-1 (ET-1) is a powerful vasoconstrictor peptide considered to be causally implicated in hypertension and the development of cardiovascular disease. 31630572 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.600 Biomarker group BEFREE Endothelin-1 (ET-1), as it functions as a neuromodulator, has been associated with hypertension in chronic intermittent hypoxia (CIH) which attribute to enhanced carotid body sensibility to hypoxia. 30579678 2019