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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Adar and Aicardi-Goutieres syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rice GI, etal., Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
  • The annotation has been inferred from sequence orthology with ADAR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rice GI, etal., Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 29 papers in RGD have been used to annotate Adar
  • Curation Notes: DNA:mutations:exons:


    • An association has been curated linking Adar and Aicardi-Goutieres syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ADAR (Homo sapiens) [(EXP) inferred from experiment]
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 29 papers in RGD have been used to annotate Adar
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:23001123


    • An association has been curated linking Adar and Aicardi-Goutieres syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with ADAR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 29 papers in RGD have been used to annotate Adar
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 PMID:9889202


    • An association has been curated linking Adar and Aicardi-Goutieres syndrome in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 29 papers in RGD have been used to annotate Adar
  • Curation Notes: OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846


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