COMP wt Allele

Preferred Label : COMP wt Allele;

NCIt synonyms : MED; Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple) Gene; THBS5; EPD1; Cartilage Oligomeric Matrix Protein wt Allele; Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene; Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene; PSACH; EDM1;

NCIt definition : Human COMP wild-type allele is located in the vicinity of 19p13.1 and is approximately 9 kb in length. This allele, which encodes cartilage oligomeric matrix protein, is involved in cartilage structural integrity. Mutation of the gene is associated with pseudoachondroplasia and multiple epiphyseal dysplasia 1.;

NCIt note : Aberrant expression of the COMP gene in breast epithelium may correlate with both a poor prognosis for breast cancer patients and more invasive disease. (Oncogene. 2016; 35: 5585-5596. doi:10.1038/onc.2016.98);

NCI Metathesaurus CUI : CL514421;

GenBank Accession Number : L32137;

PubMed : 27065333;

Details

Origin ID

C131263;

UMLS CUI

C4321267;

Automatic exact mappings (from CISMeF team)
- Cartilage oligomeric matrix protein [OMIM gene]
- Epiphyseal dysplasia, multiple, 1 [OMIM Phenotype]
- Multiple epiphyseal dysplasia [ORDO Disease]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- Pseudoachondroplasia [OMIM Phenotype]
- cartilage oligomeric matrix protein [ORDO Gene]
- collagen type IX alpha 2 chain [ORDO Gene]
- collagen type IX alpha 3 chain [ORDO Gene]
- multiple epiphyseal dysplasia 1 [DO Concept]
- sodium voltage-gated channel alpha subunit 8 [ORDO Gene]
False automatic mappings
- pseudoachondroplasia [MeSH Supplementary Concept]
OMIM relation
- Cartilage oligomeric matrix protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.1 [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Malaria Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Heparin Binding [NCIt concept]
- Limb Development [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Skeletal Development [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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