EZH2 Gene - CISMeF

Preferred Label : EZH2 Gene;

NCIt synonyms : Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit Gene;

NCIt related terms : EZH2;

CISMeF acronym : EZH2;

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

Details

Origin ID

C21327;

UMLS CUI

C1333368;

Automatic exact mappings (from CISMeF team)
- EZH2 gene [LOINC component]
- Enhancer of zeste 2 polycomb repressive complex 2 subunit [OMIM gene]
- enhancer of zeste 2 polycomb repressive complex 2 subunit [ORDO Gene]
HGNC gene
- enhancer of zeste 2 polycomb repressive complex 2 subunit [HGNC gene]
OMIM relation
- Enhancer of zeste 2 polycomb repressive complex 2 subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EZH2 gene [LOINC component]
- Enhancer of zeste 2 polycomb repressive complex 2 subunit [OMIM gene]
- enhancer of zeste 2 polycomb repressive complex 2 subunit [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
- Metastatic Prostate Carcinoma [NCIt concept]
gene_encodes_gene_product
- Histone-Lysine N-Methyltransferase EZH2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating EZH2 Gene Mutation [NCIt concept]
- EZH2 Gene Amplification [NCIt concept]
- EZH2 Gene Mutation [NCIt concept]
- EZH2 NM_004456.5:c.1936T>A [NCIt concept]
- EZH2 NM_004456.5:c.1936T>C [NCIt concept]
- EZH2 NM_004456.5:c.1936T>G [NCIt concept]
- EZH2 NM_004456.5:c.1937A>C [NCIt concept]
- EZH2 NM_004456.5:c.1937A>G [NCIt concept]
- EZH2 NM_004456.5:c.1937A>T [NCIt concept]
- EZH2 NP_004447.2:p.Y646C [NCIt concept]
- EZH2 NP_004447.2:p.Y646D [NCIt concept]
- EZH2 NP_004447.2:p.Y646F [NCIt concept]
- EZH2 NP_004447.2:p.Y646H [NCIt concept]
- EZH2 NP_004447.2:p.Y646N [NCIt concept]
- EZH2 NP_004447.2:p.Y646S [NCIt concept]
- EZH2 NP_004447.2:p.Y646X [NCIt concept]
- EZH2 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with EZH2 Mutation [NCIt concept]
- EZB Diffuse Large B-Cell Lymphoma [NCIt concept]
- Myelodysplastic Syndrome with Somatic Mutation [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with EZH2 Mutation [NCIt concept]
- EZB Diffuse Large B-Cell Lymphoma [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- DNA Binding [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
- Transcriptional Repression [NCIt concept]
genetic_biomarker_related_to
- EZH2 Gene Copy Number Alteration Positive [NCIt concept]
- EZH2 Gene Mutation Negative [NCIt concept]
- Weaver Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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