COL1A1 Gene - CISMeF

Preferred Label : COL1A1 Gene;

NCIt synonyms : Collagen Type I Alpha 1 Chain Gene;

NCIt related terms : COL1A1;

CISMeF acronym : COL1A1;

NCIt definition : This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta.;

Details

Origin ID

C29949;

UMLS CUI

C1332772;

Currated CISMeF NLP mapping
- Collagen Type I, alpha 1 Chain [MeSH Descriptor]
- Collagen Type I, alpha 1 Chain [MeSH concept]
- Collagen, type I, alpha-1 [OMIM Phenotype]
- collagen type I alpha 1 chain [ORDO Gene]
HGNC gene
- collagen type I alpha 1 chain [HGNC gene]
OMIM relation
- Collagen, type I, alpha-1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Collagen, type I, alpha-1 [OMIM Phenotype]
- Collagen, type I, alpha-1 [OMIM gene]
- collagen type I 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]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Dermatofibrosarcoma Protuberans [NCIt concept]
- Osteogenesis Imperfecta [NCIt concept]
- Osteoporosis [NCIt concept]
gene_encodes_gene_product
- Collagen Alpha-1(I) Chain [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- COL1A1 Gene Rearrangement [NCIt concept]
- COL1A1-PDGFbeta Fusion Protein Expression [NCIt concept]
- t(17;22)(q22;q13) [NCIt concept]
gene_mapped_to_disease
- Infantile Cortical Hyperostosis [NCIt concept]
- Osteogenesis Imperfecta Type I [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]
genetic_biomarker_related_to
- COL1A1 Associated Connective Tissue Disorder [NCIt concept]
- COL1A1/PDGFB Fusion Gene [NCIt concept]
- COL1A1/PDGFB Fusion Protein [NCIt concept]
- COL1A1/USP6 Fusion Gene [NCIt concept]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]

Keyword's position in hierarchy(ies) :

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