FBN2 wt Allele

Preferred Label : FBN2 wt Allele;

NCIt synonyms : Fibrillin 2 wt Allele; DA9; EOMD; CCA; Fibrillin 5 Gene; Congenital Contractural Arachnodactyly Gene;

NCIt definition : Human FBN2 wild-type allele is located within 5q23-q31 and is approximately 401 kb in length. This allele, which encodes fibrillin-2 protein, plays a role in the formation of extracellular microfibrils and elastic fibers. Mutation of the gene is associated with both congenital contractural arachnodactyly and early-onset macular degeneration.;

GenBank Accession Number : U03272;

Details

Origin ID

C120567;

UMLS CUI

C4049873;

Automatic exact mappings (from CISMeF team)
- Canonical Correlation Analysis [MeSH Descriptor]
- Cholangiocarcinoma [ORDO Disease]
- Macular degeneration, early-onset [OMIM Phenotype]
- fibrillin 2 [ORDO Gene]
False automatic mappings
- Contractural arachnodactyly, congenital [OMIM Phenotype]
OMIM relation
- Fibrillin 2 [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_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Growth Factor Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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