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 KCNQ2 and Limb dystonia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10396224 (Homo sapiens)
  • 87 RGD objects have been annotated to Limb dystonia  (HP:0002451)
  • 5 papers in RGD have been used to annotate KCNQ2
  • Curation Notes: ClinVar Annotator: match by term: Limb dystonia
  • Original References(s): PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:25959266 PMID:28492532 PMID:29760947 PMID:31152295 PMID:31832524 PMID:32139178 PMID:32573669 PMID:32581362 PMID:32917465 PMID:34711204 PMID:35104249


  • Go Back to source page   Continue to Ontology report