Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cilk1 and asphyxiating thoracic dystrophy in Heterocephalus glaber.        

  • 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 CILK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 226 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 0 papers in RGD have been used to annotate Cilk1
  • Curation Notes: ClinVar Annotator: match by term: Short rib-polydactyly syndrome
  • Original References(s): PMID:27466187


  • Go Back to source page   Continue to Ontology report