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 Kcnq1 and cardiomyopathy 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1309 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 31 papers in RGD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathies
  • Original References(s): PMID:14661677 PMID:14678125 PMID:16556865 PMID:17161064 PMID:17210839 PMID:17470695 PMID:19841300 PMID:19862833 PMID:21185501 PMID:22581653 PMID:22677073 PMID:22949429 PMID:23571586 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532


  • Go Back to source page   Continue to Ontology report