SMARCB1 Gene Inactivation

Preferred Label : SMARCB1 Gene Inactivation;

NCIt synonyms : Inactivating SNF5L1 Gene Mutation; hSNF5/INI1 Tumor Suppressor Gene Inactivation; hSNF5/INI1 Gene Inactivation; SMARCB1 Loss of Function; Inactivating hSNFS Gene Mutation; Inactivating Snr1 Gene Mutation; Inactivating BAF47 Gene Mutation; Inactivating Ini1 Gene Mutation; Inactivating SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1 Gene Mutation; Inactivating SMARCB1 Gene Mutation; hSNF5 INI1 Tumor Suppressor Gene Inactivation; Inactivating SNF5 Gene Mutation; SMARCB1 Loss of Function Mutation;

NCIt definition : A mutation in the SMARCB1 gene that either inhibits expression of the SMARCB1 protein or results in the translation of an inactive SMARCB1 protein.;

Details

Origin ID

C39813;

UMLS CUI

C1515645;

Molecular abnormality of diseases
- Epithelioid Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Epithelioid Malignant Peripheral Nerve Sheath Tumor of the Skin [NCIt concept]
- Recurrent Epithelioid Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Refractory Epithelioid Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- SMARCB1-Deficient Sinonasal Carcinoma [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_abnormality_of_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Childhood SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- SMARCB1-Deficient Sinonasal Adenocarcinoma [NCIt concept]
molecular_abnormality_involves_gene
- SMARCB1 Gene [NCIt concept]

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