COL7A1 wt Allele

Preferred Label : COL7A1 wt Allele;

NCIt synonyms : EBDCT; EBR1; Collagen, Type VII, Alpha 1 Gene; EBD1; NDNC8; Collagen Type VII Alpha 1 Chain wt Allele;

NCIt definition : Human COL7A1 wild-type allele is located in the vicinity of 3p21.1 and is approximately 31 kb in length. This allele, which encodes collagen alpha-1(VII) chain protein, plays a role in interactions between squamous epithelia and the basement membrane. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa.;

GenBank Accession Number : NM_000094;

Details

Origin ID

C107114;

UMLS CUI

C3811113;

Automatic exact mappings (from CISMeF team)
- Epidermolysis bullosa dystrophica, autosomal dominant [OMIM Phenotype]
- Epidermolysis bullosa dystrophica, autosomal recessive [OMIM Phenotype]
- Nail disorder, nonsyndromic congenital, 8 [OMIM Phenotype]
- collagen type VII alpha 1 chain [ORDO Gene]
OMIM relation
- Collagen, type VII, alpha-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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