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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ccdc22 and Ritscher-Schinzel syndrome 1 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 CCDC22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Ritscher-Schinzel syndrome 1  (DOID:0060571)
  • 7 papers in RGD have been used to annotate Ccdc22
  • Curation Notes: ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1
  • Original References(s): PMID:19377476 PMID:21826058 PMID:24916641 PMID:31971710


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