Emopamil-binding protein

Preferred Label : Emopamil-binding protein;

Symbol : EBP;

CISMeF acronym : EBP;

Type : Gene;

Alternative titles and symbols : 3-beta-hydroxysteroid-delta-8,delta-7 isomerase;

Ensembl ID : ENSG00000147155;

Prefixed ID : *300205;

Détails

Origin ID

300205;

UMLS CUI

C1414236;

Automatic exact mappings (from CISMeF team)
- 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase [NCIt concept]
- GLB1 wt Allele [NCIt concept]
- SH3 Domain-Containing Protein 19 [NCIt concept]
- SH3 domain containing 19 [HGNC gene]
- SH3D19 wt Allele [NCIt concept]
- alpha-Fetoproteins [MeSH Descriptor]
- delta(8)-delta(7)-sterol isomerase [MeSH Supplementary Concept]
- galactosidase beta 1 [ORDO Gene]
- galactosidase beta 1 [HGNC gene]
Currated CISMeF NLP mapping
- EBP Gene [NCIt concept]
- EBP cholestenol delta-isomerase [HGNC gene]
- EBP cholestenol delta-isomerase [ORDO Gene]
HGNC gene
- EBP cholestenol delta-isomerase [HGNC gene]
NCIt concept(s)
- 3-Beta-Hydroxysteroid-Delta(8),Delta(7)-Isomerase [NCIt concept]
- EBP Gene [NCIt concept]
- EBP wt Allele [NCIt concept]
ORDO concept(s)
- EBP cholestenol delta-isomerase [ORDO Gene]
Phenotypes related
- Chondrodysplasia punctata 2, X-linked dominant [OMIM Phenotype]
- Mend syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EBP Gene [NCIt concept]
- EBP cholestenol delta-isomerase [HGNC gene]

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

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