CEBPA Gene Mutation

Preferred Label : CEBPA Gene Mutation;

NCIt synonyms : CEBPA Mutation; C/EBPalpha Mutation; C EBPalpha Mutation; C/EBP-Alpha Gene Mutation; CCAAT Enhancer Binding Protein Alpha Gene Mutation; CCAAT/Enhancer Binding Protein, Alpha Gene Mutation; CEBP Gene Mutation;

NCIt related terms : CEBPA;

NCIt definition : Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.;

Details

Origin ID

C38372;

UMLS CUI

C1511473;

Automatic exact mappings (from CISMeF team)
- CCAAT enhancer binding protein alpha [ORDO Gene]
- CEBPA gene mutation [MedDRA Preferred Term]
- Ccaat/enhancer-binding protein, alpha [OMIM gene]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- CEBPA gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Minimal Residual Disease Table [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Acute Myeloid Leukemia with Biallelic CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with Germline CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with Monoallelic CEBPA Mutation [NCIt concept]
molecular_abnormality_involves_gene
- CEBPA Gene [NCIt concept]

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