IDH1 Gene Mutation

Preferred Label : IDH1 Gene Mutation;

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

NCIt related terms : IDH1 Mutation;

NCIt definition : A change in the nucleotide sequence of the IDH1 gene.;

Details

Origin ID

C118389;

UMLS CUI

C3898827;

Automatic exact mappings (from CISMeF team)
- IDH1 gene mutation [MedDRA LLT]
Molecular abnormality of diseases
- 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]
- Periosteal Chondrosarcoma [NCIt concept]
- Primary Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 [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)
- IDH1 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
- 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.R132X [NCIt concept]
- IDH1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients