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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ACTN4 and Coffin-Siris syndrome 2 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:11543702 (Homo sapiens)
  • 5 RGD objects have been annotated to Coffin-Siris syndrome 2  (DOID:0070044)
  • 9 papers in RGD have been used to annotate ACTN4
  • Curation Notes: ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2
  • Original References(s): PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532


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