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GENE - TERM ANNOTATION REPORT

RGD ID: 1308761
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smarcb1
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Acc ID: DOID:3672
Term: rhabdoid cancer
Definition: A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Smarcb1 ISOSMARCB1 (Homo sapiens)1599055RGDDNA:nonsense mutation, deletions, insertions:multiple (human) 
Smarcb1 ISOSMARCB1 (Homo sapiens)155804291RGDprotein:decreased expression:brain, kidney, soft tissue: 
Smarcb1 ISOSMARCB1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:25009291 PMID:26343384
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