Collagen, type I, alpha-2

Preferred Label : Collagen, type I, alpha-2;

Symbol : COL1A2;

CISMeF acronym : COL1A2;

Type : Gene;

Alternative titles and symbols : Collagen of skin, tendon, and bone, alpha-2 chain;

Ensembl ID : ENSG00000164692;

Prefixed ID : *120160;

Details

Origin ID

120160;

UMLS CUI

C1332773;

Automatic exact mappings (from CISMeF team)
- COL1A2 Gene [NCIt concept]
- COL1A2 wt Allele [NCIt concept]
- Collagen Alpha-2(I) Chain [NCIt concept]
- collagen type I [MeSH Descriptor]
- collagen type I alpha 2 chain [ORDO Gene]
- collagen type I alpha 2 chain [HGNC gene]
HGNC gene
- collagen type I alpha 2 chain [HGNC gene]
NCIt concept(s)
- COL1A2 Gene [NCIt concept]
- COL1A2 wt Allele [NCIt concept]
- Collagen Alpha-2(I) Chain [NCIt concept]
ORDO concept(s)
- collagen type I alpha 2 chain [ORDO Gene]
Phenotypes related
- Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 [OMIM Phenotype]
- Ehlers-danlos syndrome, arthrochalasia type, 2 [OMIM Phenotype]
- Ehlers-danlos syndrome, cardiac valvular type [OMIM Phenotype]
- Osteogenesis imperfecta, type II [OMIM Phenotype]
- Osteogenesis imperfecta, type III [OMIM Phenotype]
- Osteogenesis imperfecta, type iv [OMIM Phenotype]
- Osteoporosis [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- COL1A2 Gene [NCIt concept]
- collagen type I alpha 2 chain [HGNC gene]

Keyword's position in hierarchy(ies) :

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