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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ghrhr and isolated growth hormone deficiency in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zeitler P, etal., J Mol Endocrinol. 1998 Dec;21(3):363-71.
  • 3 additional annotations were made from Zeitler P, etal., J Mol Endocrinol. 1998 Dec;21(3):363-71.
  • 54 RGD objects have been annotated to isolated growth hormone deficiency  (DOID:0060870)
  • 26 papers in RGD have been used to annotate Ghrhr
  • Curation Notes: DNA:deletion


    • An association has been curated linking Ghrhr and isolated growth hormone deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wajnrajch MP, etal., Nat Genet. 1996 Jan;12(1):88-90.
  • The annotation has been inferred from sequence orthology with GHRHR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wajnrajch MP, etal., Nat Genet. 1996 Jan;12(1):88-90.
  • 54 RGD objects have been annotated to isolated growth hormone deficiency  (DOID:0060870)
  • 26 papers in RGD have been used to annotate Ghrhr
  • Curation Notes: isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X


    • An association has been curated linking Ghrhr and isolated growth hormone deficiency 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 GHRHR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 54 RGD objects have been annotated to isolated growth hormone deficiency  (DOID:0060870)
  • 26 papers in RGD have been used to annotate Ghrhr
  • Curation Notes: ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency


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