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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking STXBP1 and developmental and epileptic encephalopathy 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • 3 additional annotations were made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • 4 RGD objects have been annotated to developmental and epileptic encephalopathy 4  (DOID:0080436)
  • 10 papers in RGD have been used to annotate STXBP1
  • Curation Notes: DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple


  • An association has been curated linking Stxbp1 and developmental and epileptic encephalopathy 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • The annotation has been inferred from sequence orthology with STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • 4 RGD objects have been annotated to developmental and epileptic encephalopathy 4  (DOID:0080436)
  • 45 papers in RGD have been used to annotate Stxbp1
  • Curation Notes: DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple


  • An association has been curated linking Stxbp1 and developmental and epileptic encephalopathy 4 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • The annotation has been inferred from sequence orthology with STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
  • 4 RGD objects have been annotated to developmental and epileptic encephalopathy 4  (DOID:0080436)
  • 16 papers in RGD have been used to annotate Stxbp1
  • Curation Notes: DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple


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