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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Fbln5 and cutis laxa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Loeys B, etal., Hum Mol Genet 2002 Sep 1;11(18):2113-8.
  • The annotation has been inferred from sequence orthology with FBLN5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Loeys B, etal., Hum Mol Genet 2002 Sep 1;11(18):2113-8.
  • 48 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 13 papers in RGD have been used to annotate Fbln5
  • Curation Notes: DNA:missense mutation:cds:p.S227P (human)


    • An association has been curated linking Fbln5 and cutis laxa in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Fbln5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 13 papers in RGD have been used to annotate Fbln5
  • Curation Notes: OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438


    • An association has been curated linking Fbln5 and cutis laxa in Rattus norvegicus.        

  • 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]
  • 48 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 13 papers in RGD have been used to annotate Fbln5
  • Curation Notes: ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa
  • Original References(s): PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 PMID:20007835 PMID:20599547 PMID:21576112 PMID:24033266 PMID:25741868 PMID:27007659 PMID:28492532 PMID:28765615 PMID:2965322 PMID:29653220 PMID:32802946 PMID:37761846


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