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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bbs5 and Bardet-Biedl syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li JB, etal., Cell. 2004 May 14;117(4):541-52.
  • The annotation has been inferred from sequence orthology with BBS5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Li JB, etal., Cell. 2004 May 14;117(4):541-52.
  • 234 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 6 papers in RGD have been used to annotate Bbs5
  • Curation Notes: DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)


    • An association has been curated linking Bbs5 and Bardet-Biedl syndrome 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 BBS5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 234 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 6 papers in RGD have been used to annotate Bbs5
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome
  • Original References(s): PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:22626039 PMID:22773737 PMID:24400638 PMID:24559376 PMID:25640679 PMID:25741868 PMID:25982971 PMID:26325687 PMID:26355662 PMID:26766544 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30029678 PMID:30614526 PMID:30718709 PMID:31506453 PMID:31760295 PMID:32451492 PMID:32641690 PMID:32811249 PMID:33572860 PMID:37240074 PMID:37431782 PMID:9536098


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