Biallelic SMARCB1 Gene Mutation

Preferred Label : Biallelic SMARCB1 Gene Mutation;

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

NCIt definition : The presence of mutations in both alleles of the SMARCB1 gene.;

NCI Metathesaurus CUI : CL1778627;

Details

Origin ID

C186281;

UMLS CUI

C5670417;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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