centrosomal protein 290

Preferred Label : centrosomal protein 290;

Approved symbol HGNC : CEP290;

Name synonyms HGNC : Meckel syndrome; cancer/testis antigen 87; nephrocystin-6; Bardet-Biedl syndrome 14; type 4; POC3 centriolar protein homolog (Chlamydomonas); Joubert syndrome 5;

Alias symbols HGNC : rd16; SLSN6; LCA10; BBS14; FLJ13615; KIAA0373; POC3; MKS4; NPHP6; JBTS5; 3H11Ag; CT87;

Chromosome HGNC : 12q21.32;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000198707;

Details

Origin ID

HGNC:29021;

UMLS CUI

C1824725;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 14 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 14 [MeSH concept]
- Bardet-Biedl syndrome 14 [DO Concept]
- Bardet-biedl syndrome 14 [OMIM Phenotype]
- Bristol Stool Type 4 [NCIt concept]
- Centrosomal protein, 290-kd [OMIM gene]
- Joubert syndrome 5 [OMIM Phenotype]
- Joubert syndrome 5 [DO Concept]
- Joubert syndrome 5 [MeSH concept]
- Leber congenital amaurosis 10 [OMIM Phenotype]
- Meckel syndrome [DO Concept]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [OMIM phenotypic series]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel syndrome, type 4 [OMIM Phenotype]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- Senior-loken syndrome 6 [OMIM Phenotype]
- Type 4 (qualifier value) [SNOMED CT concept]
- centrosomal protein 290 [ORDO Gene]
- joubert syndrome 5 [MeSH Supplementary Concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
OMIM gene
- Centrosomal protein, 290-kd [OMIM gene]
Orphanet gene
- centrosomal protein 290 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Centrosomal protein, 290-kd [OMIM gene]

Keyword's position in hierarchy(ies) :

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