COL7A1 Gene - CISMeF

Preferred Label : COL7A1 Gene;

NCIt synonyms : Collagen Type VII Alpha 1 Chain Gene; COL7A1;

CISMeF acronym : COL7A1;

NCIt definition : This gene is involved in the organization of the epithelial basement membrane.;

Details

Origin ID

C107113;

UMLS CUI

C1413592;

Automatic exact mappings (from CISMeF team)
- Collagen, type VII, alpha-1 [OMIM gene]
- collagen type VII alpha 1 chain [ORDO Gene]
HGNC gene
- collagen type VII alpha 1 chain [HGNC gene]
OMIM relation
- Collagen, type VII, alpha-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Collagen, type VII, alpha-1 [OMIM gene]
- collagen type VII alpha 1 chain [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Collagen Alpha-1(VII) Chain [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- COL7A1 Exon 73 Mutation [NCIt concept]
- COL7A1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Epidermolysis Bullosa Dystrophica [NCIt concept]
- Epidermolysis Bullosa Dystrophica, Autosomal Dominant [NCIt concept]
- Epidermolysis Bullosa Dystrophica, Autosomal Recessive [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) :

You can consult :

recommendations
documents concerning education
documents for patients