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GENE - TERM ANNOTATION REPORT

RGD ID: 2624
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fn1
Name: fibronectin 1
Acc ID: DOID:0112297
Term: spondylometaphyseal dysplasia corner fracture type
Definition: A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/2343127/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/29100092/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Fn1 ISOFN1 (Homo sapiens)7240710OMIM  
Fn1 ISOFN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe typePMID:15666313 PMID:1677003 PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 PMID:33605604
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