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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bbs1 and Bardet-Biedl syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Mykytyn K, etal., Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
  • The annotation has been inferred from sequence orthology with BBS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Mykytyn K, etal., Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
  • 233 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 9 papers in RGD have been used to annotate Bbs1
  • Curation Notes: DNA:mutations: :multiple (human)


    • An association has been curated linking Bbs1 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 BBS1 (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 Bbs1
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome
  • Original References(s): PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 PMID:12677556 PMID:12837689 PMID:12872256 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16786513 PMID:16877420 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19763152 PMID:19797195 PMID:19858128 PMID:20120035 PMID:20177705 PMID:20301537 PMID:20307669 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22406018 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23559858 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25640679 PMID:25741868 PMID:25780760 PMID:25982971 PMID:25988237 PMID:26082521 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28991257 PMID:29099798 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30614526 PMID:30718709 PMID:31130284 PMID:31196119 PMID:31328266 PMID:31506453 PMID:31534736 PMID:31836858 PMID:31964843 PMID:31997113 PMID:32037395 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32531858 PMID:32552793 PMID:32949114 PMID:33169370 PMID:33532864 PMID:33594065 PMID:34526762 PMID:34906470 PMID:34940782 PMID:35692835 PMID:35835773 PMID:35886001 PMID:36460718 PMID:36819107 PMID:36909829 PMID:8316268 PMID:9536098


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