EDN3 wt Allele

Preferred Label : EDN3 wt Allele;

NCIt synonyms : ET-3; HSCR4; PPET3; ET3; Endothelin 3 wt Allele; WS4B;

NCIt definition : Human EDN3 wild-type allele is located in the vicinity of 20q13.32 and is approximately 26 kb in length. This allele, which encodes endothelin-3 protein, plays a role in vasoconstriction. Mutation of the gene is associated with congenital central hyperventilation syndrome, Waardenburg syndrome type 4B and increased susceptibility to Hirschsprung disease (aganglionic megacolon).;

NCI Metathesaurus CUI : CL545837;

GenBank Accession Number : X52001;

Details

Origin ID

C147999;

UMLS CUI

C4552911;

Automatic exact mappings (from CISMeF team)
- Endothelin 3 [OMIM gene]
- Endothelin-3 [MeSH Descriptor]
- Hirschsprung disease, susceptibility to, 4 [OMIM Phenotype]
- Waardenburg syndrome type 4B [DO Concept]
- Waardenburg syndrome, type 4b [OMIM Phenotype]
- endothelin 3 [ORDO Gene]
OMIM relation
- Endothelin 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.32 [NCIt concept]
gene_is_element_in_pathway
- Endothelin Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Stimulation of Cell Proliferation [NCIt concept]

Keyword's position in hierarchy(ies) :

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