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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Arid1b and Coffin-Siris syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sim JC, etal., Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.
  • The annotation has been inferred from sequence orthology with ARID1B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Sim JC, etal., Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.
  • 18 RGD objects have been annotated to Coffin-Siris syndrome  (DOID:1925)
  • 16 papers in RGD have been used to annotate Arid1b
  • Curation Notes: DNA:frameshift,nonsense mutations, haploinsufficiency:cds:


    • An association has been curated linking Arid1b and Coffin-Siris syndrome in Rattus norvegicus.        

  • 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 ARID1B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 18 RGD objects have been annotated to Coffin-Siris syndrome  (DOID:1925)
  • 16 papers in RGD have been used to annotate Arid1b
  • Curation Notes: ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking Arid1b and Coffin-Siris syndrome in Rattus norvegicus.        

  • 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 ARID1B (Homo sapiens) [(EXP) inferred from experiment]
  • 18 RGD objects have been annotated to Coffin-Siris syndrome  (DOID:1925)
  • 16 papers in RGD have been used to annotate Arid1b
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22426308 PMID:22426309


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