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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ADA2 and Splenomegaly 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:13803146 (Homo sapiens)
  • 684 RGD objects have been annotated to Splenomegaly  (HP:0001744)
  • 8 papers in RGD have been used to annotate ADA2
  • Curation Notes: ClinVar Annotator: match by term: Splenomegaly
  • Original References(s): PMID:24552284 PMID:24552285 PMID:25741868 PMID:27514238 PMID:28492532


    • An association has been curated linking ADA2 and Splenomegaly 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
  • 684 RGD objects have been annotated to Splenomegaly  (HP:0001744)
  • 8 papers in RGD have been used to annotate ADA2
  • Original References(s): OMIM:615688


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