COL5A1 wt Allele

Preferred Label : COL5A1 wt Allele;

NCIt synonyms : EDSC; EDSCL1; Collagen, Type V, Alpha 1 Gene; Collagen Type V Alpha 1 Chain wt Allele; Collagen, Type V, Alpha-1 Gene;

NCIt definition : Human COL5A1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 203 kb in length. This allele, which encodes collagen alpha-1(V) chain protein, is involved in connective tissue development. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 1.;

NCI Metathesaurus CUI : CL1643236;

GenBank Accession Number : D90279;

Details

Origin ID

C177526;

UMLS CUI

C5443968;

Automatic exact mappings (from CISMeF team)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-danlos syndrome, classic type, 1 [OMIM Phenotype]
OMIM relation
- Collagen, type V, alpha-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.3 [NCIt concept]
gene_is_element_in_pathway
- Integrin Angiogenesis Pathway [NCIt concept]
- Syndecan-1-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Eye Development [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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