EDAR wt Allele

Preferred Label : EDAR wt Allele;

NCIt synonyms : HRM1; Downless, Mouse, Homolog of Gene; EDA3; Ectodysplasin 1, Anhidrotic Receptor Gene; ED3; ECTD10A; ECTD10B; ED5; EDA-A1R; ED1R; Ectodysplasin A Receptor wt Allele; EDA1R; DL;

NCIt definition : Human EDAR wild-type allele is located in the vicinity of 2q13 and is approximately 95 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member EDAR protein, plays a role in the development of ectodermally derived tissues. Mutation of the gene is associated with hypohidrotic ectodermal dysplasia types 10A and 10B.;

NCI Metathesaurus CUI : CL951338;

GenBank Accession Number : AF130988;

Details

Origin ID

C159362;

UMLS CUI

C5202650;

Automatic exact mappings (from CISMeF team)
- Deciliter (qualifier value) [SNOMED CT concept]
- Ectodysplasin a receptor [OMIM gene]
- Hair morphology 1 [OMIM Phenotype]
- ectodermal dysplasia 10A [DO Concept]
- ectodermal dysplasia 10B [DO Concept]
- ectodysplasin A receptor [ORDO Gene]
OMIM relation
- Ectodysplasin a receptor [OMIM gene]
See also inter- (CISMeF)
- Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant [OMIM Phenotype]
- Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Survival [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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