Preferred Label : FBN1 wt Allele;
NCIt synonyms : OCTD; Fibrillin 1 wt Allele; MASS; WMS; FBN; MFS1; SGS;
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;
Origin ID : C75337;
UMLS CUI : C2700045;
Automatic exact mappings (from CISMeF team)
- Mass [MedDRA Preferred Term]
False automatic mappings
OMIM relation
Semantic type(s)
gene_found_in_organism
gene_in_chromosomal_location
gene_is_element_in_pathway
gene_plays_role_in_process
https://www.sfed.org/wp-content/uploads/2023/05/Ponction-echoendo-15a.pdf
2023
France
patient education handout
pancreatic cyst
Pancreatic Cyst
endoscopy
VOCA Regimen
puncture, nos
No Information Available
punctures
Oprelvekin
Drug Component Mass
Morphology, Attenuation, Size, and Structure Criteria
cyst, nos
Molecular Weight
Mace
en Masse
pancreas, nos
achievement
en masse Movement
mace
Informative
FBN1 wt Allele
Informed
Endoscopic Procedure
endoscopy, nos
endosonography
mass, nos
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