collagen type II alpha 1 chain

Preferred Label : collagen type II alpha 1 chain;

Approved symbol HGNC : COL2A1;

Alias symbols HGNC : STL1;

Chromosome HGNC : 12q13.11;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000139219;

Details

Origin ID

HGNC:2200;

UMLS CUI

C1413580;

Automatic exact mappings (from CISMeF team)
- Collagen, type II, alpha-1 [OMIM Phenotype]
- Stickler syndrome, type I [OMIM Phenotype]
- collagen type II alpha 1 chain [ORDO Gene]
NCIt concept
- COL2A1 Gene [NCIt concept]
OMIM gene
- Collagen, type II, alpha-1 [OMIM gene]
Orphanet gene
- collagen type II alpha 1 chain [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- COL2A1 Gene [NCIt concept]
- COL2A1 gene [LOINC component]
- Collagen, type II, alpha-1 [OMIM Phenotype]
- Collagen, type II, alpha-1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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