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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GDF5 and acromesomelic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11627547 (Homo sapiens)
  • 97 RGD objects have been annotated to acromesomelic dysplasia  (DOID:0080049)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Acromesomelic dwarfism
  • Original References(s): PMID:28492532


    • An association has been curated linking GDF5 and acromesomelic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11626374 (Homo sapiens)
  • 97 RGD objects have been annotated to acromesomelic dysplasia  (DOID:0080049)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Acromesomelic dysplasia


    • An association has been curated linking GDF5 and acromesomelic dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:401908506 (Homo sapiens)
  • 97 RGD objects have been annotated to acromesomelic dysplasia  (DOID:0080049)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Acromesomelic dwarfism
  • Original References(s): PMID:25741868


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