spectrin alpha, erythrocytic 1

Preferred Label : spectrin alpha, erythrocytic 1;

Approved symbol HGNC : SPTA1;

Name synonyms HGNC : elliptocytosis 2;

Alias symbols HGNC : EL2;

Chromosome HGNC : 1q23.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000163554;

Details

Origin ID

HGNC:11272;

UMLS CUI

C1420385;

Automatic exact mappings (from CISMeF team)
- Elliptocytosis 2 [OMIM Phenotype]
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
- elliptocytosis 2 [MeSH concept]
- elliptocytosis 2 [MeSH Supplementary Concept]
- spectrin alpha, erythrocytic 1 [ORDO Gene]
NCIt concept
- SPTA1 Gene [NCIt concept]
OMIM gene
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
Orphanet gene
- spectrin alpha, erythrocytic 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SPTA1 Gene [NCIt concept]
- Spectrin, alpha, erythrocytic 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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