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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SH2B3 and familial erythrocytosis 1 in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SH2B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to familial erythrocytosis 1  (DOID:0060652)
  • 0 papers in RGD have been used to annotate SH2B3


    • An association has been curated linking SH2B3 and familial erythrocytosis 1 in Chlorocebus sabaeus.        

  • 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 SH2B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to familial erythrocytosis 1  (DOID:0060652)
  • 0 papers in RGD have been used to annotate SH2B3
  • Curation Notes: ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
  • Original References(s): PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070


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