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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gdf5 and multiple synostoses syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dawson K, etal., Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.
  • The annotation has been inferred from sequence orthology with GDF5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dawson K, etal., Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.
  • 3 RGD objects have been annotated to multiple synostoses syndrome 1  (DOID:0081317)
  • 27 papers in RGD have been used to annotate Gdf5
  • Curation Notes: DNA:missense mutation:cds:p.R438L(1313G>T)(human)


    • An association has been curated linking Gdf5 and multiple synostoses syndrome 1 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 GDF5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to multiple synostoses syndrome 1  (DOID:0081317)
  • 27 papers in RGD have been used to annotate Gdf5
  • Curation Notes: ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome


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