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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Samhd1 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 SAMHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 9 papers in RGD have been used to annotate Samhd1
  • Curation Notes: ClinVar Annotator: match by term: Aicardi Goutieres syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:36115319 PMID:9536098


    • An association has been curated linking Samhd1 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 SAMHD1 (Homo sapiens) [(EXP) inferred from experiment]
  • 212 RGD objects have been annotated to Aicardi-Goutieres syndrome  (DOID:0050629)
  • 9 papers in RGD have been used to annotate Samhd1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:23364794


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