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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking RNASEH2A and Aicardi-Goutieres syndrome 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:8621918 (Homo sapiens)
  • 226 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 6 papers in RGD have been used to annotate RNASEH2A
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:17846997 PMID:21454563 PMID:23592335 PMID:25604658 PMID:25741868 PMID:28492532 PMID:31130681


    • An association has been curated linking RNASEH2A and Aicardi-Goutieres syndrome 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:14688216 (Homo sapiens)
  • 226 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 6 papers in RGD have been used to annotate RNASEH2A
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:21454563 PMID:24183309 PMID:25274781 PMID:25604658 PMID:25741868 PMID:27943079 PMID:28492532


    • An association has been curated linking RNASEH2A and Aicardi-Goutieres syndrome 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:8621919 (Homo sapiens)
  • 226 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 6 papers in RGD have been used to annotate RNASEH2A
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking RNASEH2A and Aicardi-Goutieres syndrome 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:8621917 (Homo sapiens)
  • 226 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 6 papers in RGD have been used to annotate RNASEH2A
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:17846997 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24300241 PMID:25604658 PMID:26182405 PMID:27943079 PMID:28492532


    • An association has been curated linking RNASEH2A and Aicardi-Goutieres syndrome 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:11629850|RGD:11664623 (Homo sapiens) & RGD:11629850|RGD:11664623 (Homo sapiens)
  • 226 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 6 papers in RGD have been used to annotate RNASEH2A
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome


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