SMARCB1 Gene Mutation

Preferred Label : SMARCB1 Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the SMARCB1 gene.;

NCI Metathesaurus CUI : CL524495;

Details

Origin ID

C136623;

UMLS CUI

C4526832;

Molecular abnormality of diseases
- Advanced Rhabdoid Tumor [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor Molecular Subtypes [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor-MYC [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor-SHH [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor-TYR [NCIt concept]
- Childhood Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Extrarenal Rhabdoid Tumor [NCIt concept]
- Extrarenal Rhabdoid Tumor of the Liver [NCIt concept]
- Extrarenal Rhabdoid Tumor of the Ovary [NCIt concept]
- Extrarenal Rhabdoid Tumor of the Prostate [NCIt concept]
- Metastatic Rhabdoid Tumor [NCIt concept]
- Recurrent Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Recurrent Extrarenal Rhabdoid Tumor [NCIt concept]
- Recurrent Extrarenal Rhabdoid Tumor of the Ovary [NCIt concept]
- Recurrent Rhabdoid Tumor [NCIt concept]
- Recurrent Rhabdoid Tumor of the Kidney [NCIt concept]
- Refractory Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Refractory Extrarenal Rhabdoid Tumor [NCIt concept]
- Refractory Extrarenal Rhabdoid Tumor of the Ovary [NCIt concept]
- Refractory Rhabdoid Tumor [NCIt concept]
- Refractory Rhabdoid Tumor of the Kidney [NCIt concept]
- Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor of the Kidney [NCIt concept]
- Stage M0 Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Stage M1 Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Stage M2 Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Stage M3 Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Stage M4 Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Unresectable Extrarenal Rhabdoid Tumor [NCIt concept]
- Unresectable Rhabdoid Tumor [NCIt concept]
- Unresectable Rhabdoid Tumor of the Kidney [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Central Nervous System SMARCB1/INI1-Deficient Tumor [NCIt concept]
- Desmoplastic Myxoid Tumor of the Pineal Region, SMARCB1-Mutant [NCIt concept]
molecular_abnormality_involves_gene
- SMARCB1 Gene [NCIt concept]

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