EDA wt Allele - CISMeF

Preferred Label : EDA wt Allele;

NCIt synonyms : EDA1; EDA2; ED1; ODT1; XLHED; EDA-A1; EDA-A2; EDA; STHAGX1; ED1-A1; ED1-A2; XHED; Ectodermal Dysplasia 1, Anhidrotic Gene; Ectodysplasin A wt Allele; Ectodysplasin Gene; TNLG7C; ECTD1; Oligodontia 1 Gene; HED; HED1;

NCIt definition : Human EDA wild-type allele is located in the vicinity of Xq13.1 and is approximately 423 kb in length. This allele, which encodes ectodysplasin-A protein, is involved in the morphogenesis of ectodermally derived tissues. Mutation of the gene is associated with X-linked hypohidrotic ectodermal dysplasia type 1 and X-linked, selective tooth agenesis type 1.;

NCI Metathesaurus CUI : CL951335;

GenBank Accession Number : U59227;

Details

Origin ID

C159357;

UMLS CUI

C5202649;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant [OMIM Phenotype]
- Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive [OMIM Phenotype]
- Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant [OMIM Phenotype]
- Ectodysplasin a [OMIM gene]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- Tooth agenesis, selective, X-linked, 1 [OMIM Phenotype]
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 1 [DO Concept]
- ectodermal dysplasia 1, anhidrotic [MeSH Descriptor]
- ectodysplasin A [ORDO Gene]
- ectodysplasins [MeSH Descriptor]
- gap junction protein beta 6 [ORDO Gene]
- hematoma, epidural, cranial [MeSH Descriptor]
- tooth agenesis, selective, X-Linked, 1 [MeSH Supplementary Concept]
OMIM relation
- Ectodysplasin a [OMIM gene]
See also inter- (CISMeF)
- Ectodermal dysplasia 1, hypohidrotic, X-linked [OMIM Phenotype]
- Ectodermal dysplasia 11b, 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_in_chromosomal_location
- Xq13.1 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Death Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Receptor Activation [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Tumor Necrosis Factor Receptor Binding [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

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