DCN wt Allele - CISMeF

Preferred Label : DCN wt Allele;

NCIt synonyms : DSPG2; CSCD; PG40; PGS2; PGII; SLRR1B; Decorin wt Allele;

NCIt definition : Human DCN wild-type allele is located in the vicinity of 12q21.33 and is approximately 38 kb in length. This allele, which encodes decorin protein, is involved in extracellular matrix collagen fibril formation. A genetic deletion in this gene is associated with congenital stromal corneal dystrophy.;

GenBank Accession Number : AF138300;

Details

Origin ID

C112874;

UMLS CUI

C3810523;

Automatic exact mappings (from CISMeF team)
- Congenital stromal corneal dystrophy [ORDO Disease]
- Corneal dystrophy, congenital stromal [OMIM Phenotype]
- Decorin [OMIM gene]
- congenital stromal corneal dystrophy [DO Concept]
- decorin [ORDO Gene]
OMIM relation
- Decorin [OMIM gene]
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_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Protein-Carbohydrate Interaction [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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