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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bbs2 and retinitis pigmentosa 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 BBS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 601 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 13 papers in RGD have been used to annotate Bbs2
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31530639 PMID:31980526 PMID:32037395 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 PMID:9536098


    • An association has been curated linking Bbs2 and retinitis pigmentosa 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 BBS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 601 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 13 papers in RGD have been used to annotate Bbs2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31980526 PMID:32037395 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 PMID:9536098


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