EDN1 wt Allele

Preferred Label : EDN1 wt Allele;

NCIt synonyms : Endothelin 1 wt Allele; ET1; High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 Gene; ARCND3; HDLCQ7; PPET1; QME;

NCIt definition : Human EDN1 wild-type allele is located in the vicinity of 6p24.1 and is approximately 7 kb in length. This allele, which encodes endothelin-1 protein, is involved in the modulation of vasoconstriction.;

GenBank Accession Number : NM_001955;

Details

Origin ID

C52411;

UMLS CUI

C1707839;

Automatic exact mappings (from CISMeF team)
- Endothelin 1 [OMIM Phenotype]
- Endothelin 1 [OMIM gene]
- High density lipoprotein cholesterol level quantitative trait locus 7 [OMIM Phenotype]
- Question mark ears, isolated [OMIM Phenotype]
- endothelin 1 [ORDO Gene]
OMIM relation
- Endothelin 1 [OMIM Phenotype]
See also inter- (CISMeF)
- Auriculocondylar syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hypertension [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 6: 12398645-12404771 [NCIt concept]
gene_in_chromosomal_location
- 6p24.1 [NCIt concept]
gene_is_element_in_pathway
- Cardiac Hypertrophy Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- NFAT Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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