IDH2 Gene - CISMeF

Preferred Label : IDH2 Gene;

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

NCIt related terms : IDH2;

CISMeF acronym : IDH2;

NCIt definition : This gene plays a role in intermediary metabolism.;

Details

Origin ID

C84948;

UMLS CUI

C1415877;

Currated CISMeF NLP mapping
- IDH2 gene [LOINC component]
- Isocitrate dehydrogenase 2 [OMIM gene]
- isocitrate dehydrogenase (NADP(+)) 2 [ORDO Gene]
- isocitrate dehydrogenase (NADP(+)) 2 [HGNC gene]
HGNC gene
- isocitrate dehydrogenase (NADP(+)) 2 [HGNC gene]
OMIM relation
- Isocitrate dehydrogenase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- IDH2 gene [LOINC component]
- Isocitrate dehydrogenase 2 [OMIM gene]
- isocitrate dehydrogenase (NADP(+)) 2 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Astrocytoma [NCIt concept]
- Oligodendroglioma [NCIt concept]
- Secondary Glioblastoma [NCIt concept]
gene_encodes_gene_product
- Isocitrate Dehydrogenase [NADP], Mitochondrial [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious IDH2 Gene Mutation [NCIt concept]
- IDH2 Gene Mutation [NCIt concept]
- IDH2 NM_002168.3:c.418C>G [NCIt concept]
- IDH2 NM_002168.3:c.418C>T [NCIt concept]
- IDH2 NM_002168.3:c.419G>A [NCIt concept]
- IDH2 NM_002168.3:c.419G>T [NCIt concept]
- IDH2 NM_002168.3:c.514A>G [NCIt concept]
- IDH2 NM_002168.3:c.514A>T [NCIt concept]
- IDH2 NM_002168.3:c.515G>A [NCIt concept]
- IDH2 NM_002168.3:c.515G>T [NCIt concept]
- IDH2 NM_002168.3:c.515_516delinsAA [NCIt concept]
- IDH2 NM_002168.3:c.516G>C [NCIt concept]
- IDH2 NM_002168.3:c.516G>T [NCIt concept]
- IDH2 NP_002159.2:p.R140G [NCIt concept]
- IDH2 NP_002159.2:p.R140L [NCIt concept]
- IDH2 NP_002159.2:p.R140Q [NCIt concept]
- IDH2 NP_002159.2:p.R140W [NCIt concept]
- 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.R172S [NCIt concept]
- IDH2 NP_002159.2:p.R172W [NCIt concept]
- IDH2 NP_002159.2:p.R172X [NCIt concept]
- IDH2 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted [NCIt concept]
- Astrocytoma, IDH-Mutant [NCIt concept]
- Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]
- Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
genetic_biomarker_related_to
- IDH2 Gene Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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