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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Wfdc21 and Bernard-Soulier Syndrome, Type B 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 SEPTIN5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Bernard-Soulier Syndrome, Type B  (DOID:9006593)
  • 2 papers in RGD have been used to annotate Wfdc21
  • Curation Notes: ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type
  • Original References(s): PMID:10887115 PMID:18414213 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 PMID:7633430 PMID:8703016 PMID:9116284


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