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 Cstb and progressive myoclonus epilepsy 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 CSTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 197 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 14 papers in RGD have been used to annotate Cstb
  • Curation Notes: ClinVar Annotator: match by term: Progressive myoclonic epilepsy
  • Original References(s): PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17576681 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23091450 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:9536098


  • Go Back to source page   Continue to Ontology report