SMARCA4 Gene - CISMeF

Preferred Label : SMARCA4 Gene;

NCIt synonyms : SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 4 Gene;

NCIt related terms : SMARCA4;

CISMeF acronym : SMARCA4;

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

Details

Origin ID

C19878;

UMLS CUI

C1335843;

Automatic exact mappings (from CISMeF team)
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [ORDO Gene]
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 [OMIM gene]
HGNC gene
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [HGNC gene]
OMIM relation
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 [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 a, member 4 [HGNC gene]
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 [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
- Transcription Activator BRG1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- SMARCA4 Gene Inactivation [NCIt concept]
gene_involved_in_molecular_abnormality
- Biallelic SMARCA4 Gene Mutation [NCIt concept]
- Deleterious SMARCA4 Gene Mutation [NCIt concept]
- SMARCA4 Gene Inactivation [NCIt concept]
- SMARCA4 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
- SMARCA4 -Deficient Sinonasal Carcinoma [NCIt concept]
- Thoracic SMARCA4-Deficient Undifferentiated Tumor [NCIt concept]
gene_mapped_to_disease
- 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]
- Recurrent Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Refractory Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
- SMARCA4 -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]
- Thoracic SMARCA4-Deficient Undifferentiated Tumor [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- Hydrolysis [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- Loss of BRG1 Protein Expression [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]

Keyword's position in hierarchy(ies) :

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