SMARCB1 Gene Deletion

Preferred Label : SMARCB1 Gene Deletion;

NCIt synonyms : SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1 Gene Deletion; Snr1 Gene Deletion; BAF47 Gene Deletion; hSNF5/INI1 Gene Deletion; SNF5 Gene Deletion; Ini1 Gene Deletion; SMARCB1 Deletion; SNF5L1 Gene Deletion; hSNFS Gene Deletion;

NCIt definition : A molecular abnormality referring to the loss of at least one copy of the SMARCB1 gene.;

NCI Metathesaurus CUI : CL1413128;

Details

Origin ID

C175958;

UMLS CUI

C5446884;

Molecular abnormality of diseases
- SMARCB1-Deficient Sinonasal Carcinoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 22 [NCIt concept]
is_molecular_abnormality_of_disease
- Poorly Differentiated Chordoma [NCIt concept]
molecular_abnormality_involves_gene
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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