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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Smarcb1 and schwannomatosis 1 in Mus musculus.        

  • 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 SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to schwannomatosis 1  (DOID:0070480)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Qualifier: susceptibility


    • An association has been curated linking Smarcb1 and schwannomatosis 1 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]
  • 2 RGD objects have been annotated to schwannomatosis 1  (DOID:0070480)
  • 25 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic
  • Original References(s): PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:21208904 PMID:21255467 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24740647 PMID:24933152 PMID:25631985 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29409008 PMID:29517885 PMID:34747535


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