Collagen, type I, alpha-1

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

Symbol : COL1A1;

Type : Gene;

Alternative titles and symbols : Collagen of skin, tendon, and bone, alpha-1 chain;

Included titles and symbols : Col1a1/pdgfb fusion gene;

Ensembl ID : ENSG00000108821;

Prefixed ID : *120150;

Details

Origin ID

120150;

UMLS CUI

C1332772;

Automatic exact mappings (from CISMeF team)
- Collagen Alpha-1(I) Chain [NCIt concept]
HGNC gene
- collagen type I alpha 1 chain [HGNC gene]
Phenotypes related
- Caffey disease [OMIM Phenotype]
- Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 [OMIM Phenotype]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]
- Osteogenesis Imperfecta, type I [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)
- COL1A1 Gene [NCIt concept]
- collagen type I alpha 1 chain [HGNC gene]

Keyword's position in hierarchy(ies) :

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