FBN1 Gene - CISMeF

Preferred Label : FBN1 Gene;

NCIt synonyms : Fibrillin 1 Gene;

NCIt related terms : FBN1;

CISMeF acronym : FBN1;

NCIt definition : This gene is involved in the maintenance of connective tissue.;

Details

Origin ID

C75336;

UMLS CUI

C1414542;

HGNC gene
- fibrillin 1 [HGNC gene]
OMIM relation
- Fibrillin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FBN1 gene [LOINC component]
- Fibrillin 1 [OMIM gene]
- fibrillin 1 [HGNC gene]
gene_encodes_gene_product
- Fibrillin-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Marfan Syndrome [NCIt concept]
- Stiff Skin Syndrome [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]
genetic_biomarker_related_to
- Marfan Syndrome [NCIt concept]
- Weill-Marchesani Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients