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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SHANK3 and Global developmental delay 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:13613222 (Homo sapiens)
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 7 papers in RGD have been used to annotate SHANK3
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:25741868


    • An association has been curated linking SHANK3 and Global developmental delay 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:13828448 (Homo sapiens)
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 7 papers in RGD have been used to annotate SHANK3
  • Curation Notes: ClinVar Annotator: match by term: Retarded psychomotor development
  • Original References(s): PMID:32581362


    • An association has been curated linking SHANK3 and Global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 7 papers in RGD have been used to annotate SHANK3
  • Original References(s): ORPHA:48652


    • An association has been curated linking SHANK3 and Global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 7 papers in RGD have been used to annotate SHANK3
  • Original References(s): OMIM:606232


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