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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fbln5 and autosomal dominant cutis laxa 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with FBLN5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant cutis laxa 2  (DOID:0070136)
  • 11 papers in RGD have been used to annotate Fbln5


  • An association has been curated linking Fbln5 and autosomal dominant cutis laxa 2 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]
  • 1 RGD objects have been annotated to autosomal dominant cutis laxa 2  (DOID:0070136)
  • 11 papers in RGD have been used to annotate Fbln5
  • Curation Notes: ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2
  • Original References(s): PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29653220 PMID:32802946


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