Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bbs9 and Bardet-Biedl syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Nishimura DY, etal., Am J Hum Genet. 2005 Dec;77(6):1021-33. Epub 2005 Oct 26.
  • The annotation has been inferred from sequence orthology with BBS9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nishimura DY, etal., Am J Hum Genet. 2005 Dec;77(6):1021-33. Epub 2005 Oct 26.
  • 233 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 9 papers in RGD have been used to annotate Bbs9
  • Curation Notes: DNA:mutations:multiple:


  • An association has been curated linking Bbs9 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 BBS9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 233 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 9 papers in RGD have been used to annotate Bbs9
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome
  • Original References(s): PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 PMID:21209035 PMID:23160099 PMID:23757202 PMID:24746959 PMID:24849935 PMID:25640679 PMID:25741868 PMID:26355662 PMID:27708425 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709 PMID:31054281 PMID:31456290 PMID:31488071 PMID:31888296 PMID:32686083 PMID:33138063 PMID:33616283 PMID:33964006 PMID:9536098


  • Go Back to source page   Continue to Ontology report