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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Srp54a and severe congenital neutropenia 8 in Rattus norvegicus.        

  • 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 SRP54 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to severe congenital neutropenia 8  (DOID:0112135)
  • 7 papers in RGD have been used to annotate Srp54a


  • An association has been curated linking Srp54a and severe congenital neutropenia 8 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 SRP54 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to severe congenital neutropenia 8  (DOID:0112135)
  • 7 papers in RGD have been used to annotate Srp54a
  • Curation Notes: ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977


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