Collagen, type II, alpha-1

Preferred Label : Collagen, type II, alpha-1;

Symbol : COL2A1;

Type : Gene;

Alternative titles and symbols : Collagen of cartilage; Collagen, type II;

Included titles and symbols : Chondrocalcin;

Ensembl ID : ENSG00000139219;

Prefixed ID : *120140;

Details

Origin ID

120140;

UMLS CUI

C1413580;

Automatic exact mappings (from CISMeF team)
- collagen type ii [MeSH Descriptor]
HGNC gene
- collagen type II alpha 1 chain [HGNC gene]
Phenotypes related
- Achondrogenesis, type II [OMIM Phenotype]
- Avascular necrosis of femoral head, primary, 1 [OMIM Phenotype]
- Czech dysplasia [OMIM Phenotype]
- Epiphyseal dysplasia, multiple, with myopia and conductive deafness [OMIM Phenotype]
- Kniest dysplasia [OMIM Phenotype]
- Legg-calve-perthes disease [OMIM Phenotype]
- Osteoarthritis with mild chondrodysplasia [OMIM Phenotype]
- Platyspondylic lethal skeletal dysplasia, torrance type [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, strudwick type [OMIM Phenotype]
- Spondyloepiphyseal dysplasia congenita [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, stanescu type [OMIM Phenotype]
- Spondyloperipheral dysplasia [OMIM Phenotype]
- Stickler syndrome, type I [OMIM Phenotype]
- Stickler syndrome, type I, nonsyndromic ocular [OMIM Phenotype]
- Vitreoretinopathy with phalangeal epiphyseal dysplasia [OMIM Phenotype]
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 chain [HGNC gene]

Keyword's position in hierarchy(ies) :

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