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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bbs12 and Bardet-Biedl syndrome in Chinchilla lanigera.        

  • 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 BBS12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 223 RGD objects have been annotated to Bardet-Biedl syndrome  (DOID:1935)
  • 2 papers in RGD have been used to annotate Bbs12
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome
  • Original References(s): PMID:17160889 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 PMID:20498079 PMID:20648243 PMID:20827784 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24416769 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:26082521 PMID:26489029 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31888296 PMID:31964843 PMID:32448990 PMID:32531858 PMID:33046855 PMID:33532864 PMID:33964006 PMID:35912300


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