Centrosomal protein, 290-kd

Preferred Label : Centrosomal protein, 290-kd;

Symbol : CEP290;

CISMeF acronym : CEP290;

Type : Gene;

Alternative titles and symbols : Antigen identified by monoclonal antibody 3h11; Nephrocystin 6; Bbs14 gene; 3H11AG; KIAA0373; NPHP6; BBS14;

Ensembl ID : ENSG00000198707;

Prefixed ID : *610142;

Details

Origin ID

610142;

UMLS CUI

C1824725;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 14 [DO Concept]
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
HGNC gene
- centrosomal protein 290 [HGNC gene]
ORDO concept(s)
- centrosomal protein 290 [ORDO Gene]
Phenotypes related
- Bardet-biedl syndrome 14 [OMIM Phenotype]
- Joubert syndrome 5 [OMIM Phenotype]
- Leber congenital amaurosis 10 [OMIM Phenotype]
- Meckel syndrome, type 4 [OMIM Phenotype]
- Senior-loken syndrome 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- centrosomal protein 290 [HGNC gene]

Keyword's position in hierarchy(ies) :

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