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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking BTK and agammaglobulinemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from de Weers M, etal., Hum Mol Genet. 1994 Jan;3(1):161-6.
  • 2 additional annotations were made from de Weers M, etal., Hum Mol Genet. 1994 Jan;3(1):161-6.
  • 63 RGD objects have been annotated to agammaglobulinemia  (DOID:2583)
  • 16 papers in RGD have been used to annotate BTK
  • Qualifier: susceptibility
  • Curation Notes: DNA:insertions, point mutations

  • This annotation was curated on 2018-05-12 09:01:04.0 by RGD . For more information contact us

    An association has been curated linking BTK and agammaglobulinemia in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 63 RGD objects have been annotated to agammaglobulinemia  (DOID:2583)
  • 16 papers in RGD have been used to annotate BTK
  • Curation Notes: CTD Direct Evidence: therapeutic
  • Original References(s): PMID:15142874

  • This annotation was curated on 2020-01-07 04:52:54.0 by RGD . For more information contact us

    An association has been curated linking BTK and agammaglobulinemia 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:12845002 (Homo sapiens)
  • 63 RGD objects have been annotated to agammaglobulinemia  (DOID:2583)
  • 16 papers in RGD have been used to annotate BTK
  • Curation Notes: ClinVar Annotator: match by term: Agammaglobulinemia
  • Original References(s): PMID:10352268

  • This annotation was curated on 2020-01-07 06:59:05.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.