IDH2 Gene Mutation

Preferred Label : IDH2 Gene Mutation;

NCIt synonyms : Isocitrate Dehydrogenase (NADP( )) 2, Mitochondrial Gene Mutation; Isocitrate Dehydrogenase 2 (NADP ), Mitochondrial Gene Mutation;

NCIt related terms : IDH2 Mutation;

NCIt definition : A change in the nucleotide sequence of the IDH2 gene.;

Details

Origin ID

C118390;

UMLS CUI

C3898824;

Automatic exact mappings (from CISMeF team)
- IDH2 gene mutation [MedDRA LLT]
Molecular abnormality of diseases
- Ann Arbor Stage I Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Ann Arbor Stage II Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Ann Arbor Stage III Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Ann Arbor Stage IV Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Atypical Cartilaginous Tumor [NCIt concept]
- Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [NCIt concept]
- Central Atypical Cartilaginous Tumor [NCIt concept]
- Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [NCIt concept]
- Central Chondrosarcoma, Grade 1 [NCIt concept]
- Central Chondrosarcoma, Grade 2 [NCIt concept]
- Central Chondrosarcoma, Grade 3 [NCIt concept]
- Chondrosarcoma, Grade 1 [NCIt concept]
- Chondrosarcoma, Grade 2 [NCIt concept]
- Chondrosarcoma, Grade 3 [NCIt concept]
- Cutaneous Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type by Ann Arbor Stage [NCIt concept]
- Periosteal Chondrosarcoma [NCIt concept]
- Primary Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [NCIt concept]
- Recurrent Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Refractory Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type [NCIt concept]
- Secondary Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [NCIt concept]
- Secondary Peripheral Atypical Cartilaginous Tumor [NCIt concept]
- Secondary Peripheral Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [NCIt concept]
- Secondary Peripheral Chondrosarcoma, Grade 1 [NCIt concept]
- Secondary Peripheral Chondrosarcoma, Grade 2 [NCIt concept]
- Secondary Peripheral Chondrosarcoma, Grade 3 [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- IDH2 gene mutation [MedDRA LLT]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- IDH2 NP_002159.2:p.R140X [NCIt concept]
- IDH2 NP_002159.2:p.R172G [NCIt concept]
- IDH2 NP_002159.2:p.R172K [NCIt concept]
- IDH2 NP_002159.2:p.R172M [NCIt concept]
- IDH2 NP_002159.2:p.R172W [NCIt concept]
- IDH2 NP_002159.2:p.R172X [NCIt concept]
- IDH2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH2 Gene [NCIt concept]

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