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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ARID1A and Coffin-Siris syndrome 2 in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ARID1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Coffin-Siris syndrome 2  (DOID:0070044)
  • 0 papers in RGD have been used to annotate ARID1A


    • An association has been curated linking ARID1A and Coffin-Siris syndrome 2 in Chlorocebus sabaeus.        

  • 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 ARID1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Coffin-Siris syndrome 2  (DOID:0070044)
  • 0 papers in RGD have been used to annotate ARID1A
  • Curation Notes: ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
  • Original References(s): PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:32888375 PMID:34942405 PMID:35353340 PMID:36135330 PMID:36474027 PMID:39825153


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