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


1 Annotations Found.

An association has been curated linking Itsn2 and Focal Epilepsy with Speech Disorder and with or without Mental Retardation in Mus musculus.        

  • 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 ITSN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Focal Epilepsy with Speech Disorder and with or without Mental Retardation  (DOID:9002510)
  • 9 papers in RGD have been used to annotate Itsn2
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-03-26 10:14:39.0 by RGD . For more information contact us

    Go Back to source page   Continue to Ontology report

    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.