EYA1 wt Allele

Preferred Label : EYA1 wt Allele;

NCIt synonyms : MGC141875; BOR; Eyes Absent Homolog 1 (Drosophila) wt Allele; BOP; EYA wt Allele; BOS1; Eyes Absent 1 Gene; Eyes Absent (Drosophila) Homolog 1 Gene; Eyes Absent, Drosophila, Homolog of, 1;

NCIt definition : Human EYA1 wild-type allele is located in the vicinity of 8q13.3 and is approximately 165 kb in length. This allele, which encodes eyes absent homolog 1 protein, may be involved in the development of the eyes, ears, branchial arches and kidney. Mutations of this gene are associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, congenital cataracts and ocular anterior segment anomalies.;

GenBank Accession Number : AJ000098;

Details

Origin ID

C75391;

UMLS CUI

C2699845;

OMIM relation
- Eya transcriptional coactivator and phosphatase 1 [OMIM gene]
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_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Maturation [NCIt concept]
- Morphogenesis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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