Spectrin, alpha, nonerythrocytic 1

Preferred Label : Spectrin, alpha, nonerythrocytic 1;

Symbol : SPTAN1;

CISMeF acronym : SPTAN1;

Type : Gene;

Alternative titles and symbols : Spectrin, nonerythroid, alpha subunit; Spectrin, alpha-II; Fodrin, alpha; NEAS;

Ensembl ID : ENSG00000197694;

Prefixed ID : *182810;

Détails

Origin ID

182810;

UMLS CUI

C1420386;

Automatic exact mappings (from CISMeF team)
- spectrin alpha, non-erythrocytic 1 [ORDO Gene]
- spectrin alpha, non-erythrocytic 1 [HGNC gene]
HGNC gene
- spectrin alpha, non-erythrocytic 1 [HGNC gene]
ORDO concept(s)
- spectrin alpha, non-erythrocytic 1 [ORDO Gene]
Phenotypes related
- Developmental and epileptic encephalopathy 5 [OMIM Phenotype]
- Developmental delay with or without epilepsy [OMIM Phenotype]
- Neuronopathy, distal hereditary motor, autosomal dominant 11 [OMIM Phenotype]
- Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- spectrin alpha, non-erythrocytic 1 [HGNC gene]

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