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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pth1r and Eiken syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Duchatelet S, etal., Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3.
  • The annotation has been inferred from sequence orthology with PTH1R (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Duchatelet S, etal., Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3.
  • 1 RGD objects have been annotated to Eiken syndrome  (DOID:0111732)
  • 22 papers in RGD have been used to annotate Pth1r
  • Curation Notes: DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)


  • An association has been curated linking Pth1r and Eiken syndrome 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 PTH1R (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Eiken syndrome  (DOID:0111732)
  • 22 papers in RGD have been used to annotate Pth1r


  • An association has been curated linking Pth1r and Eiken syndrome 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 PTH1R (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Eiken syndrome  (DOID:0111732)
  • 22 papers in RGD have been used to annotate Pth1r
  • Curation Notes: ClinVar Annotator: match by term: Eiken syndrome
  • Original References(s): PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790


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