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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fbln5 and autosomal dominant cutis laxa in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with FBLN5 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to autosomal dominant cutis laxa  (DOID:0070142)
  • 11 papers in RGD have been used to annotate Fbln5
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Fbln5 and autosomal dominant cutis laxa in Mus musculus.        

  • 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 FBLN5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to autosomal dominant cutis laxa  (DOID:0070142)
  • 11 papers in RGD have been used to annotate Fbln5
  • Curation Notes: ClinVar Annotator: match by term: Cutis laxa, autosomal dominant
  • Original References(s): PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 PMID:17035250 PMID:18185537 PMID:19194475 PMID:20007835 PMID:20599547 PMID:21152794 PMID:21576112 PMID:22829427 PMID:24962763 PMID:25525159 PMID:25741868 PMID:28492532 PMID:28765615 PMID:31395654 PMID:3232707


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