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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Smarcb1 and schwannomatosis in Mus musculus.        

  • 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 SMARCB1 (Homo sapiens) [(EXP) inferred from experiment]
  • 25 RGD objects have been annotated to schwannomatosis  (DOID:3204)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:24362817


    • An association has been curated linking Smarcb1 and schwannomatosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Louvrier C, etal., Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009.
  • The annotation has been inferred from sequence orthology with SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Louvrier C, etal., Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009.
  • 25 RGD objects have been annotated to schwannomatosis  (DOID:3204)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: DNA:multiple:multiple (human)


    • An association has been curated linking Smarcb1 and schwannomatosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Caltabiano R, etal., Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1.
  • The annotation has been inferred from sequence orthology with SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Caltabiano R, etal., Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1.
  • 25 RGD objects have been annotated to schwannomatosis  (DOID:3204)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)


    • An association has been curated linking Smarcb1 and schwannomatosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from van den Munckhof P, etal., Neurogenetics. 2012 Feb;13(1):1-7. doi: 10.1007/s10048-011-0300-y. Epub 2011 Oct 26.
  • The annotation has been inferred from sequence orthology with SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from van den Munckhof P, etal., Neurogenetics. 2012 Feb;13(1):1-7. doi: 10.1007/s10048-011-0300-y. Epub 2011 Oct 26.
  • 25 RGD objects have been annotated to schwannomatosis  (DOID:3204)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)


    • An association has been curated linking Smarcb1 and schwannomatosis 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 SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 25 RGD objects have been annotated to schwannomatosis  (DOID:3204)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
  • Original References(s): PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 PMID:28492532


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