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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking AK2 and Severe combined immunodeficiency 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:150546718 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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:126746285 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Original References(s): ORPHA:33355


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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:151663022 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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:151663021 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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:8566673 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:17576681 PMID:19043417 PMID:28331055 PMID:28492532 PMID:9536098


  • An association has been curated linking AK2 and Severe combined immunodeficiency 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:8600911 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 11 papers in RGD have been used to annotate AK2
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:19043416 PMID:26229552 PMID:28331055 PMID:29270983


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