Gene: EDN1

Alternate names for this Gene: ARCND3|ET1|HDLCQ7|PPET1|QME

Gene Summary: This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.1

Description of this Gene: endothelin 1

Type of Gene: protein-coding

rs587777231 in EDN1 gene and AURICULOCONDYLAR SYNDROME 3 PMID 24268655 2013 Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

rs2070699 in EDN1 gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and Colorectal Carcinoma PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and Colorectal Neoplasms PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs1629862 in EDN1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs10478730 in EDN1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10478730 in EDN1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2070699 in EDN1 gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs2070699 in EDN1 gene and Malignant tumor of colon PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs587777233 in EDN1 gene and QUESTION MARK EARS, ISOLATED PMID 24268655 2013 Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

rs1794849 in EDN1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10478730 in EDN1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10478730 in EDN1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10478730 in EDN1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1630736 in EDN1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.