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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FBN1 and aortic aneurysm in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with Fbn1 (Mus musculus)
  • 208 RGD objects have been annotated to aortic aneurysm  (DOID:3627)
  • 0 papers in RGD have been used to annotate FBN1
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:p.C1039G (mouse)
  • Original References(s): PMID:24071006 REF_RGD_ID:7365039


  • An association has been curated linking FBN1 and aortic aneurysm in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 208 RGD objects have been annotated to aortic aneurysm  (DOID:3627)
  • 0 papers in RGD have been used to annotate FBN1
  • Curation Notes: ClinVar Annotator: match by term: Ascending aortic dilation
  • Original References(s): PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:29875124 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425


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