About: FBN1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • FBN1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 134797
GenBank_Accession_Number
  • X63556
Semantic_Type
  • Gene or Genome
Preferred_Name
  • FBN1 wt Allele
UMLS_CUI
  • C2700045
EntrezGene_ID
  • 2200
Legacy_Concept_Name
  • FBN1_wt_Allele
HGNC_ID
  • HGNC:3603
FULL_SYN
  • LIP2SYNCI
  • FBN1 wt AllelePTNCI
  • FBNSYNCI
  • SGSSYNCI
  • WMSSYNCI
  • OCTDSYNCI
  • MASSSYNCI
  • Fibrillin 1 wt AlleleSYNCI
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.NCI
DesignNote
  • 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)
code
  • C75337
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 52 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software