TSC2 Gene - CISMeF

Preferred Label : TSC2 Gene;

NCIt synonyms : Tuberous Sclerosis 2 Gene;

NCIt related terms : TSC2;

CISMeF acronym : TSC2;

NCIt definition : This gene plays a role in signal transduction and cell cycle control. It is involved in cell adhesion, differentiation, growth and migration.;

Details

Origin ID

C18260;

UMLS CUI

C0694895;

Automatic exact mappings (from CISMeF team)
- TSC complex subunit 2 [ORDO Gene]
- TSC2 gene [LOINC component]
- Tsc complex subunit 2 [OMIM gene]
- Tuberous sclerosis 2 [OMIM Phenotype]
HGNC gene
- TSC complex subunit 2 [HGNC gene]
OMIM relation
- Tsc complex subunit 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TSC complex subunit 2 [HGNC gene]
- TSC2 gene [LOINC component]
- Tsc complex subunit 2 [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
- Tuberin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious TSC2 Gene Mutation [NCIt concept]
- Somatic TSC2 Gene Mutation [NCIt concept]
- TSC2 Gene Inactivation [NCIt concept]
- TSC2 Gene Mutation [NCIt concept]
- TSC2 Gene Rearrangement [NCIt concept]
- TSC2 Monoallelic Inactivation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- PEComa [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]
gene_mapped_to_disease
- Advanced Malignant PEComa [NCIt concept]
- Angiomyolipoma [NCIt concept]
- Benign Lung PEComa [NCIt concept]
- Benign PEComa [NCIt concept]
- Benign Uterine Corpus PEComa [NCIt concept]
- Bladder Benign PEComa [NCIt concept]
- Bladder Malignant PEComa [NCIt concept]
- Bladder PEComa [NCIt concept]
- Childhood Kidney Angiomyolipoma [NCIt concept]
- Childhood PEComa [NCIt concept]
- Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres [NCIt concept]
- Epithelioid Angiomyolipoma [NCIt concept]
- Kidney Angiomyolipoma [NCIt concept]
- Kidney Angiomyolipoma with Epithelial Cysts [NCIt concept]
- Kidney Classic Angiomyolipoma [NCIt concept]
- Kidney Epithelioid Angiomyolipoma [NCIt concept]
- Kidney Oncocytoma-Like Angiomyolipoma [NCIt concept]
- Liver Angiomyolipoma [NCIt concept]
- Locally Advanced Unresectable Malignant PEComa [NCIt concept]
- Lung Clear Cell Tumor [NCIt concept]
- Lung Lymphangioleiomyomatosis [NCIt concept]
- Lung Malignant PEComa [NCIt concept]
- Lung PEComa [NCIt concept]
- Lymphangioleiomyoma [NCIt concept]
- Lymphangioleiomyomatosis [NCIt concept]
- Malignant PEComa [NCIt concept]
- Metastatic Malignant PEComa [NCIt concept]
- PEComa [NCIt concept]
- Refractory PEComa [NCIt concept]
- Sclerosing PEComa [NCIt concept]
- Skin Lymphangioleiomyomatosis [NCIt concept]
- Skin PEComa [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]
- Uterine Corpus Malignant PEComa [NCIt concept]
- Uterine Corpus PEComa [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- Focal Cortical Dysplasia Type 2 [NCIt concept]
- Tuberous Sclerosis [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]

Keyword's position in hierarchy(ies) :

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