coiled-coil and C2 domain containing 2A

Preferred Label : coiled-coil and C2 domain containing 2A;

Approved symbol HGNC : CC2D2A;

Name synonyms HGNC : Meckel syndrome; type 6;

Alias symbols HGNC : JBTS9; KIAA1345; MKS6;

Chromosome HGNC : 4p15.32;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000048342;

Details

Origin ID

HGNC:29253;

UMLS CUI

C2240338;

Automatic exact mappings (from CISMeF team)
- Bristol Stool Type 6 [NCIt concept]
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]
- Joubert syndrome 9 [OMIM Phenotype]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [DO Concept]
- Meckel syndrome [OMIM phenotypic series]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel syndrome, type 6 [OMIM Phenotype]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- Type 6 (qualifier value) [SNOMED CT concept]
- coiled-coil and C2 domain containing 2A [ORDO Gene]
- meckel syndrome type 1 [MeSH Supplementary Concept]
NCIt concept
- CC2D2A Gene [NCIt concept]
OMIM gene
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]
Orphanet gene
- coiled-coil and C2 domain containing 2A [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CC2D2A Gene [NCIt concept]
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients