ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 GeneticVariation group BEFREE Recent studies have demonstrated that two genetic variants of ECE1 gene, rs212528 and rs213045 (C338A), are associated with hypertension and atherosclerosis formation. 24595843 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 AlteredExpression group BEFREE Up-regulation of ECE-1 could contribute, at least partially, to the development of hypertension seen in apoE mice, because FR-901533 avoided it. 18997155 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 GeneticVariation group LHGDN We genotyped 5 single nucleotide polymorphisms (SNPs) in the ECE1 gene in 1,873 individuals from a general Japanese population and identified one SNP associated with hypertension in women (rs212528: TT vs. TC+CC: odds ratio=1.40; 95% confidence intervals: 1.04-1.89; p=0.026), after adjusting for confounding factors. 17664854 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 GeneticVariation group BEFREE We genotyped 5 single nucleotide polymorphisms (SNPs) in the ECE1 gene in 1,873 individuals from a general Japanese population and identified one SNP associated with hypertension in women (rs212528: TT vs. TC+CC: odds ratio=1.40; 95% confidence intervals: 1.04-1.89; p=0.026), after adjusting for confounding factors. 17664854 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 Biomarker group CTD_human Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation. 12566389 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 Biomarker group RGD Effects of benazepril, an angiotensin-converting enzyme inhibitor, combined with CGS 35066, a selective endothelin-converting enzyme inhibitor, on arterial blood pressure in normotensive and spontaneously hypertensive rats. 12193123 2002
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 Biomarker group RGD Increased renal medullary endothelin-1 synthesis in prehypertensive DOCA- and salt-treated rats. 10894793 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.630 Biomarker group HPO
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		0.600 GeneticVariation disease UNIPROT A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		0.600 Biomarker disease GENOMICS_ENGLAND A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		0.600 Biomarker disease CTD_human
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.410 Biomarker disease CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.410 GeneticVariation disease BEFREE Mutations in ECE-1 may cause developmental defects in humans, such as Hirschsprung disease, velocardiofacial syndrome and related neurocristopathies. 9449665 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.410 GeneticVariation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.410 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.310 Biomarker disease BEFREE The results also implied that it is ellagic acid, kaempferol and their derivatives enriched in ECE that might play vital roles in managing type 1 as well as type 2 diabetes. 29710864 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.310 GeneticVariation disease BEFREE We investigated the relationship between 11 single nucleotide polymorphisms (SNPs) of ET-1 family genes (including three in EDN1, one in EDNRA, two in EDNRB, four in ECE1 and one in ECE2) and atherosclerotic changes assessed using pulse wave velocity (PWV) and carotid ultrasonography in 630 patients with essential hypertension (EHT). 17525706 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.310 Biomarker disease CTD_human Subdepressor dose of benidipine ameliorates diabetic cardiac remodeling accompanied by normalization of upregulated endothelin system in rats. 16387788 2006
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.310 Biomarker disease CTD_human
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.300 Biomarker disease CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0393912
Disease: Segmental Autonomic Dysfunction
Segmental Autonomic Dysfunction 		0.300 Biomarker disease CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0750944
Disease: Peripheral Autonomic Nervous System Diseases
Peripheral Autonomic Nervous System Diseases 		0.300 Biomarker group CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0750945
Disease: Nervous System Diseases, Parasympathetic
Nervous System Diseases, Parasympathetic 		0.300 Biomarker group CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
CUI: C0750946
Disease: Nervous System Diseases, Sympathetic
Nervous System Diseases, Sympathetic 		0.300 Biomarker group CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999