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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking BTK and deafness-dystonia-optic neuronopathy syndrome 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:152977772 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 44 papers in RGD have been used to annotate BTK
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking BTK and deafness-dystonia-optic neuronopathy syndrome 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:152977773 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 44 papers in RGD have been used to annotate BTK
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking BTK and deafness-dystonia-optic neuronopathy syndrome 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:152977774 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 44 papers in RGD have been used to annotate BTK
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


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