Collagen, type VII, alpha-1

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

Symbol : COL7A1;

CISMeF acronym : COL7A1;

Type : Gene;

Alternative titles and symbols : Long-chain collagen; Lc collagen;

Ensembl ID : ENSG00000114270;

Prefixed ID : *120120;

Details

Origin ID

120120;

UMLS CUI

C1413592;

Automatic exact mappings (from CISMeF team)
- COL7A1 Gene [NCIt concept]
- Collagen Alpha-1(VII) Chain [NCIt concept]
- collagen type VII alpha 1 chain [ORDO Gene]
- collagen type VII alpha 1 chain [HGNC gene]
HGNC gene
- collagen type VII alpha 1 chain [HGNC gene]
NCIt concept(s)
- COL7A1 Gene [NCIt concept]
- COL7A1 wt Allele [NCIt concept]
- Collagen Alpha-1(VII) Chain [NCIt concept]
ORDO concept(s)
- collagen type VII alpha 1 chain [ORDO Gene]
Phenotypes related
- Epidermolysis bullosa dystrophica, autosomal dominant [OMIM Phenotype]
- Epidermolysis bullosa dystrophica, autosomal recessive [OMIM Phenotype]
- Epidermolysis bullosa dystrophica, pretibial [OMIM Phenotype]
- Epidermolysis bullosa pruriginosa [OMIM Phenotype]
- Epidermolysis bullosa with congenital localized absence of skin and deformity of nails [OMIM Phenotype]
- Nail disorder, nonsyndromic congenital, 8 [OMIM Phenotype]
- Transient bullous dermolysis of the newborn [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- COL7A1 Gene [NCIt concept]
- collagen type VII alpha 1 chain [HGNC gene]

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