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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Jagn1 and severe congenital neutropenia 6 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 JAGN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe congenital neutropenia 6  (DOID:0112134)
  • 9 papers in RGD have been used to annotate Jagn1


  • An association has been curated linking Jagn1 and severe congenital neutropenia 6 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Boztug K, etal., Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
  • The annotation has been inferred from sequence orthology with JAGN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Boztug K, etal., Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
  • 11 RGD objects have been annotated to severe congenital neutropenia 6  (DOID:0112134)
  • 9 papers in RGD have been used to annotate Jagn1
  • Curation Notes: DNA:missense mutations: :multiple


  • An association has been curated linking Jagn1 and severe congenital neutropenia 6 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Baris S, etal., J Clin Immunol. 2015 May;35(4):339-43. doi: 10.1007/s10875-015-0156-2. Epub 2015 Apr 8.
  • The annotation has been inferred from sequence orthology with JAGN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Baris S, etal., J Clin Immunol. 2015 May;35(4):339-43. doi: 10.1007/s10875-015-0156-2. Epub 2015 Apr 8.
  • 11 RGD objects have been annotated to severe congenital neutropenia 6  (DOID:0112134)
  • 9 papers in RGD have been used to annotate Jagn1
  • Curation Notes: DNA:missense mutation:exon:p.H44Y (human)


  • An association has been curated linking Jagn1 and severe congenital neutropenia 6 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 JAGN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe congenital neutropenia 6  (DOID:0112134)
  • 9 papers in RGD have been used to annotate Jagn1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
  • Original References(s): PMID:17576681 PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346 PMID:9536098


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