SMARCB1 Gene - CISMeF

Preferred Label : SMARCB1 Gene;

NCIt synonyms : SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1 Gene;

NCIt related terms : SMARCB1;

CISMeF acronym : SMARCB1;

NCIt definition : This gene plays a role in chromatin remodeling and regulation of transcription.;

Détails

Origin ID

C18394;

UMLS CUI

C0812273;

Automatic exact mappings (from CISMeF team)
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [ORDO Gene]
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
HGNC gene
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [HGNC gene]
OMIM relation
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [HGNC gene]
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator of Chromatin Subfamily B Member 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Biallelic SMARCB1 Gene Mutation [NCIt concept]
- Germline SMARCB1 Gene Mutation [NCIt concept]
- SMARCB1 Gene Deletion [NCIt concept]
- SMARCB1 Gene Inactivation [NCIt concept]
- SMARCB1 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Central Nervous System SMARCB1/INI1-Deficient Tumor [NCIt concept]
- Poorly Differentiated Chordoma [NCIt concept]
- Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 1 [NCIt concept]
- SMARCB1 Schwannomatosis 1 [NCIt concept]
- SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- SMARCB1-Deficient Sinonasal Adenocarcinoma [NCIt concept]
- SMARCB1-Deficient Sinonasal Carcinoma [NCIt concept]
gene_mapped_to_disease
- 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]
- Central Nervous System SMARCB1/INI1-Deficient Tumor [NCIt concept]
- Childhood Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Childhood SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- Desmoplastic Myxoid Tumor of the Pineal Region, SMARCB1-Mutant [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]
- Poorly Differentiated Chordoma [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 Predisposition Syndrome 1 [NCIt concept]
- Rhabdoid Tumor of the Kidney [NCIt concept]
- SMARCB1 Schwannomatosis 1 [NCIt concept]
- SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- SMARCB1-Deficient Sinonasal Adenocarcinoma [NCIt concept]
- SMARCB1-Deficient Sinonasal Carcinoma [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]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- Coffin-Siris Syndrome [NCIt concept]
- Loss of INI 1 Protein Expression [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 1 [NCIt concept]
- SMARCB1 Immunohistochemistry Test Indicator [NCIt concept]
- SMARCB1 Negative [NCIt concept]
- SMARCB1 Positive [NCIt concept]
- Schwannomatosis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients