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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Btk and Fabry disease 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 BTK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 2 papers in RGD have been used to annotate Btk
  • Curation Notes: ClinVar Annotator: match by term: Fabry disease
  • Original References(s): PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557


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