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GENE - TERM ANNOTATION REPORT

RGD ID: 1318721
Species: Homo sapiens
RGD Object: Gene
Symbol: SMARCB1
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Acc ID: DOID:3204
Term: schwannomatosis
Definition: A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. (DO)
Definition Source(s): https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "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 IAGP 151708704RGDDNA:multiple:multiple (human) 
SMARCB1 IAGP 151708708RGDDNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) 
SMARCB1 IAGP 155804288RGDDNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) 
SMARCB1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:24362817
SMARCB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SchwannomatosisPMID:28492532
SMARCB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneousPMID:25741868 PMID:28492532
SMARCB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Schwannomatosis 
SMARCB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SchwannomatosisPMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:28492532
SMARCB1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SchwannomatosisPMID:25741868
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