CHEK2 Gene - CISMeF

Preferred Label : CHEK2 Gene;

NCIt synonyms : Checkpoint Kinase 2 Gene; CHEK2;

CISMeF acronym : CHEK2;

NCIt definition : This gene plays a role in cell survival and the negative regulation of cell growth.;

Details

Origin ID

C40965;

UMLS CUI

C1424448;

HGNC gene
- checkpoint kinase 2 [HGNC gene]
OMIM relation
- Checkpoint kinase 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CHEK2 gene [LOINC component]
- Checkpoint kinase 2 [OMIM Phenotype]
- Checkpoint kinase 2 [OMIM gene]
- checkpoint kinase 2 [ORDO Gene]
- checkpoint kinase 2 [HGNC 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_associated_with_disease
- Brain Neoplasm [NCIt concept]
- Breast Neoplasm [NCIt concept]
- Colorectal Neoplasm [NCIt concept]
- Prostate Neoplasm [NCIt concept]
gene_encodes_gene_product
- Serine/Threonine-Protein Kinase Chk2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CHEK2 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- CHEK2 Gene Mutation [NCIt concept]
- CHEK2 NM_007194.4:c.1283C>T [NCIt concept]
- CHEK2 NM_007194.4:c.470T>C [NCIt concept]
- CHEK2 NP_009125.1:p.I157T [NCIt concept]
- CHEK2 NP_009125.1:p.S428F [NCIt concept]
- CHEK2 Protein Variant [NCIt concept]
- Deleterious CHEK2 Gene Mutation [NCIt concept]
- Germline CHEK2 Gene Mutation [NCIt concept]
- Inactivating CHEK2 Gene Mutation [NCIt concept]
- Somatic CHEK2 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]
gene_mapped_to_disease
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]
gene_plays_role_in_process
- Cell Survival [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Stress Response Signaling [NCIt concept]
genetic_biomarker_related_to
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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