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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Smarcb1 and atypical teratoid rhabdoid tumor in Chinchilla lanigera.        

  • 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]
  • 6 RGD objects have been annotated to atypical teratoid rhabdoid tumor  (DOID:2129)
  • 2 papers in RGD have been used to annotate Smarcb1
  • Curation Notes: ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
  • Original References(s): PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 PMID:9536098 PMID:9671307 PMID:9892189


    • An association has been curated linking Smarcb1 and atypical teratoid rhabdoid tumor in Chinchilla lanigera.        

  • 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]
  • 6 RGD objects have been annotated to atypical teratoid rhabdoid tumor  (DOID:2129)
  • 2 papers in RGD have been used to annotate Smarcb1


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