FBN1 wt Allele

Preferred Label : FBN1 wt Allele;

NCIt synonyms : OCTD; Fibrillin 1 wt Allele; MASS; WMS; FBN; MFS1; SGS; WMS2; GPHYSD2; ECTOL1; Fibrillin Gene; ACMICD; Fibrillin 1 (Marfan Syndrome) Gene; MFLS; SSKS; Marfan Syndrome Gene;

NCIt definition : Human FBN1 wild-type allele is located in the vicinity of 15q21.1 and is approximately 237 kb in length. This allele, which encodes fibrillin-1 protein, plays a role in modulation of connective tissue structure. Mutations in the gene are associated with a number of congenital defects.;

NCIt note : Mutations in the FBN1 gene are involved in Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. (Entrez Gene);

GenBank Accession Number : X63556;

Détails

Origin ID

C75337;

UMLS CUI

C2700045;

Automatic exact mappings (from CISMeF team)
- 5,7,11,13-octadecatrayne-1,18-diol [MeSH Supplementary Concept]
- 5,7,11,13-octadecatrayne-1,18-diol [MeSH concept]
- Drug-Eluting stents [MeSH Descriptor]
- Fibrillin 1 [OMIM gene]
- Lump on face (finding) [SNOMED CT concept]
- Marfan syndrome [OMIM Phenotype]
- Marfan syndrome type 1 [ORDO Disease]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [LOINC Challenge]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [ACR pathology]
- Mass [LOINC part]
- Mass [LOINC Property]
- Mass [MedDRA Preferred Term]
- Mass (morphologic abnormality) [SNOMED CT concept]
- Mass NOS [MedDRA LLT]
- Mass of back (finding) [SNOMED CT concept]
- Mass of body structure (finding) [SNOMED CT concept]
- Mass syndrome [OMIM Phenotype]
- Mass, a measure of quantity of matter (property) (qualifier value) [SNOMED CT concept]
- Measurement [ICHI action]
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-giedion midface retraction syndrome [OMIM Phenotype]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
- Williams-beuren syndrome [OMIM Phenotype]
- breast mass [Radlex concept]
- fibrillin 1 [ORDO Gene]
- liver mass [Radlex concept]
- lung mass [Radlex concept]
- mass [IUPAC Quantity]
- mass [OBI concept]
- mass [Radlex concept]
- mass in or on skin [Radlex concept]
- mass, nos [SNOMED Notion]
- microscopy, electron, scanning [MeSH Descriptor]
- sarcopenic obesity [Artificial nutrition thesaurus concept]
- seminoma [MeSH Descriptor]
False automatic mappings
- Shprintzen-Goldberg syndrome [ORDO Disease]
- mass [Disease (Nov.)]
OMIM relation
- Fibrillin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q21.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Marfan Syndrome [NCIt concept]
gene_is_element_in_pathway
- TGF-beta Signaling Pathway KEGG [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]

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