Send us a Message



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

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking STXBP1 and Epileptic spasm 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:8641032 (Homo sapiens)
  • 210 RGD objects have been annotated to Epileptic spasm  (HP:0011097)
  • 10 papers in RGD have been used to annotate STXBP1
  • Curation Notes: ClinVar Annotator: match by term: West syndrome
  • Original References(s): PMID:21193638 PMID:23934111 PMID:25326390 PMID:28492532 PMID:29186148 PMID:30174244 PMID:30266908 PMID:30540253 PMID:31221716 PMID:31474318 PMID:32112430


  • An association has been curated linking STXBP1 and Epileptic spasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 210 RGD objects have been annotated to Epileptic spasm  (HP:0011097)
  • 10 papers in RGD have been used to annotate STXBP1
  • Original References(s): OMIM:612164


  • An association has been curated linking STXBP1 and Epileptic spasm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 210 RGD objects have been annotated to Epileptic spasm  (HP:0011097)
  • 10 papers in RGD have been used to annotate STXBP1
  • Original References(s): ORPHA:599373


  • Go Back to source page   Continue to Ontology report