Microcephalin 1

Preferred Label : Microcephalin 1;

Symbol : MCPH1;

CISMeF acronym : MCPH1;

Type : Gene;

Alternative titles and symbols : Brct-repeat inhibitor of tert expression 1; MICROCEPHALIN; BRIT1; Mcph1 gene;

Ensembl ID : ENSG00000147316;

Prefixed ID : *607117;

Détails

Origin ID

607117;

UMLS CUI

C1417075;

Automatic exact mappings (from CISMeF team)
- MCPH1 Gene [NCIt concept]
- MCPH1 wt Allele [NCIt concept]
- Microcephalin [NCIt concept]
- microcephalin 1 [ORDO Gene]
- microcephalin 1 [HGNC gene]
- primary autosomal recessive microcephaly 1 [DO Concept]
HGNC gene
- microcephalin 1 [HGNC gene]
NCIt concept(s)
- MCPH1 Gene [NCIt concept]
- MCPH1 wt Allele [NCIt concept]
- Microcephalin [NCIt concept]
ORDO concept(s)
- microcephalin 1 [ORDO Gene]
Phenotypes related
- Microcephaly 1, primary, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MCPH1 Gene [NCIt concept]
- microcephalin 1 [HGNC gene]

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

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