IDH1 Gene - CISMeF

Preferred Label : IDH1 Gene;

NCIt synonyms : Isocitrate Dehydrogenase 1 (NADP ), Soluble Gene; IDH1;

CISMeF acronym : IDH1;

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

Details

Origin ID

C77215;

UMLS CUI

C1415876;

Currated CISMeF NLP mapping
- IDH1 gene [LOINC component]
- Isocitrate dehydrogenase, nadp(+), 1 [OMIM gene]
- isocitrate dehydrogenase (NADP(+)) 1 [ORDO Gene]
- isocitrate dehydrogenase (NADP(+)) 1 [HGNC gene]
HGNC gene
- isocitrate dehydrogenase (NADP(+)) 1 [HGNC gene]
OMIM relation
- Isocitrate dehydrogenase, nadp(+), 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- IDH1 gene [LOINC component]
- Isocitrate dehydrogenase, nadp(+), 1 [OMIM gene]
- isocitrate dehydrogenase (NADP(+)) 1 [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_encodes_gene_product
- Isocitrate Dehydrogenase [NADP] Cytoplasmic [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious IDH1 Gene Mutation [NCIt concept]
- IDH1 Gene Mutation [NCIt concept]
- IDH1 NM_005896.3:c.356G>A [NCIt concept]
- IDH1 NM_005896.3:c.394C>A [NCIt concept]
- IDH1 NM_005896.3:c.394C>G [NCIt concept]
- IDH1 NM_005896.3:c.394C>T [NCIt concept]
- IDH1 NM_005896.3:c.394_395delinsGT [NCIt concept]
- IDH1 NM_005896.3:c.394_395delinsTC [NCIt concept]
- IDH1 NM_005896.3:c.395G>A [NCIt concept]
- IDH1 NM_005896.3:c.395G>T [NCIt concept]
- IDH1 NM_005896.3:c.395_396inv [NCIt concept]
- IDH1 NP_005887.2:p.R119Q [NCIt concept]
- IDH1 NP_005887.2:p.R132C [NCIt concept]
- IDH1 NP_005887.2:p.R132G [NCIt concept]
- IDH1 NP_005887.2:p.R132H [NCIt concept]
- IDH1 NP_005887.2:p.R132L [NCIt concept]
- IDH1 NP_005887.2:p.R132S [NCIt concept]
- IDH1 NP_005887.2:p.R132V [NCIt concept]
- IDH1 NP_005887.2:p.R132X [NCIt concept]
- IDH1 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
- Carbohydrate Metabolic Process [NCIt concept]
- Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
genetic_biomarker_related_to
- IDH1 Gene Mutation Negative [NCIt concept]
- IDH1 R132H Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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