Bestrophin 1 - CISMeF

Preferred Label : Bestrophin 1;

Symbol : BEST1;

CISMeF acronym : BEST1;

Type : Gene;

Alternative titles and symbols : Vmd2 gene; TU15B;

Ensembl ID : ENSG00000167995;

Prefixed ID : *607854;

Détails

Origin ID

607854;

UMLS CUI

C1826421;

Automatic exact mappings (from CISMeF team)
- Bestrophins [MeSH Descriptor]
- bestrophin 1 [ORDO Gene]
- bestrophin 1 [HGNC gene]
HGNC gene
- bestrophin 1 [HGNC gene]
NCIt concept(s)
- BEST1 Gene [NCIt concept]
- BEST1 wt Allele [NCIt concept]
- Bestrophin-1 [NCIt concept]
ORDO concept(s)
- bestrophin 1 [ORDO Gene]
Phenotypes related
- Bestrophinopathy, autosomal recessive [OMIM Phenotype]
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
- Retinitis pigmentosa 50 [OMIM Phenotype]
- Vitreoretinochoroidopathy [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BEST1 Gene [NCIt concept]
- bestrophin 1 [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

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