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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

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 Saitsu H, etal., Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.
  • 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 Saitsu H, etal., Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.
  • 5 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:deletion, missense mutations:exon: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.
  • 5 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 Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to developmental and epileptic encephalopathy 4  (DOID:0080436)
  • 45 papers in RGD have been used to annotate Stxbp1


    • 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 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 STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 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: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:22495311 PMID:22612257 PMID:23409955 PMID:23533165 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25284778 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25473036 PMID:25497044 PMID:25533962 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:25951140 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26740508 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27159321 PMID:27171548 PMID:27184330 PMID:27652284 PMID:27779742 PMID:28133863 PMID:28135719 PMID:28191889 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29067685 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29389947 PMID:29538625 PMID:29655203 PMID:29758562 PMID:29760947 PMID:29761117 PMID:29896790 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31474318 PMID:31780880 PMID:31855252 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32581362 PMID:32643187 PMID:33004838 PMID:33176815 PMID:33196034 PMID:33272087 PMID:34008892 PMID:34145886 PMID:34906502 PMID:35002760 PMID:35007884 PMID:35190816 PMID:35655584 PMID:9536098


    • 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 RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with STXBP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 5 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: CTD Direct Evidence: marker/mechanism


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