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 FGFR3 and epilepsy 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:8600163 (Homo sapiens)
  • 4086 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 36 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359


  • Go Back to source page   Continue to Ontology report