Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


1 Annotations Found.

An association has been curated linking Septin12 and Kohlschutter-Tonz 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 SEPTIN12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 21 RGD objects have been annotated to Kohlschutter-Tonz syndrome  (DOID:0111668)
  • 7 papers in RGD have been used to annotate Septin12
  • Curation Notes: ClinVar Annotator: match by term: Kohlschutter's syndrome
  • Original References(s): PMID:28492532

  • Go Back to source page   Continue to Ontology report