COL1A1 wt Allele

Preferred Label : COL1A1 wt Allele;

NCIt synonyms : EDSC; OI4; OI2; OI1; OI3; Collagen Type I Alpha 1 Chain wt Allele; Collagen, Type I, Alpha 1 Gene; Collagen, Type I, Alpha-1 Gene;

NCIt definition : Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes collagen alpha-1 (I) chain protein, is involved in both the development and maintenance of tendon, ligaments and bones. Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types. In cases of dermatofibrosarcoma protuberans the gene is involved in a translocation t(17;22)(q22;q13) with the PDGF gene.;

GenBank Accession Number : NM_000088;

Details

Origin ID

C52453;

UMLS CUI

C1704810;

OMIM relation
- Collagen, type I, alpha-1 [OMIM Phenotype]
See also inter- (CISMeF)
- Osteogenesis Imperfecta, type I [OMIM Phenotype]
- Osteogenesis imperfecta, type III [OMIM Phenotype]
- Osteogenesis imperfecta, type iv [OMIM Phenotype]
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_associated_with_disease
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Osteogenesis Imperfecta [NCIt concept]
- Osteoporosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 17: 45633992-45616456 [NCIt concept]
gene_in_chromosomal_location
- 17q21.3-q22.1 [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis Pathway [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [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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