COL2A1 Gene - CISMeF

Preferred Label : COL2A1 Gene;

NCIt synonyms : Collagen, Type II, Alpha 1 Gene;

NCIt related terms : COL2A1;

CISMeF acronym : COL2A1;

NCIt definition : This gene plays a role in both skeletal development and cartilage structure.;

Détails

Origin ID

C75315;

UMLS CUI

C1413580;

False automatic mappings
- Collagen, type II, alpha-1 [OMIM Phenotype]
HGNC gene
- collagen type II alpha 1 chain [HGNC gene]
OMIM relation
- Collagen, type II, alpha-1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- COL2A1 gene [LOINC component]
- Collagen, type II, alpha-1 [OMIM Phenotype]
- Collagen, type II, alpha-1 [OMIM gene]
- collagen type II alpha 1 chain [HGNC gene]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Collagen Alpha-1(II) Chain [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Kniest Dysplasia [NCIt concept]
- Osteoarthritis with Mild Chondrodysplasia [NCIt concept]
- Spondyloperipheral Dysplasia [NCIt concept]
- Stickler Syndrome Type 1 [NCIt concept]
- Type II Achondrogenesis [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]
- Skeletal Development [NCIt concept]
- Wound Repair [NCIt concept]
genetic_biomarker_related_to
- Perthes Disease [NCIt concept]
- Stickler Syndrome [NCIt concept]

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