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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking BBS2 and Bardet-Biedl Syndrome 1/2, Digenic in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8596489 (Homo sapiens)
  • 1 RGD objects have been annotated to Bardet-Biedl Syndrome 1/2, Digenic  (DOID:9003383)
  • 9 papers in RGD have been used to annotate BBS2
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic
  • Original References(s): PMID:11567139 PMID:19402160 PMID:20498079 PMID:21344540 PMID:21642631 PMID:22410627 PMID:23829372 PMID:25541840 PMID:25741868 PMID:28492532 PMID:34906470


    • An association has been curated linking BBS2 and Bardet-Biedl Syndrome 1/2, Digenic in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8558160 (Homo sapiens)
  • 1 RGD objects have been annotated to Bardet-Biedl Syndrome 1/2, Digenic  (DOID:9003383)
  • 9 papers in RGD have been used to annotate BBS2
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic
  • Original References(s): PMID:11285252 PMID:11567139 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532


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