Gene Variant - CISMeF

Preferred Label : Gene Variant;

NCIt synonyms : Gene Mutant; Gene Mutation; Gene Variation;

NCIt related terms : GENETIC_SEQ; alternative;

NCIt definition : A variation in the nucleic acid sequence of a specific gene.;

Details

Origin ID

C97927;

UMLS CUI

C0678941;

Automatic exact mappings (from CISMeF team)
- Alternating (qualifier value) [SNOMED CT concept]
- Alternation [MedDRA LLT]
- Alternism [DeCS]
- Gene mutation [MedDRA Preferred Term]
- Heart alternation [MedDRA Preferred Term]
- Mutations [LOINC Class]
- N-myristoyltransferase 1 [HGNC gene]
- alternant [IUPAC Term]
- alternating [SNOMED Notion]
- genetic variation [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- ALL Molecular Analysis Table [NCIt concept]
- ALL Variable Terminology [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- AML Variable Terminology [NCIt concept]
- CTDC Property Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Acute Myeloid Leukemia with ASXL1 Mutation [NCIt concept]
- Acute Myeloid Leukemia with BCOR Mutation [NCIt concept]
- Acute Myeloid Leukemia with EZH2 Mutation [NCIt concept]
- Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations [NCIt concept]
- Acute Myeloid Leukemia with RUNX1 Mutation [NCIt concept]
- Acute Myeloid Leukemia with SF3B1 Mutation [NCIt concept]
- Acute Myeloid Leukemia with SRSF2 Mutation [NCIt concept]
- Acute Myeloid Leukemia with STAG2 Mutation [NCIt concept]
- Acute Myeloid Leukemia with U2AF1 Mutation [NCIt concept]
- Acute Myeloid Leukemia with ZRSR2 Mutation [NCIt concept]
- Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations [NCIt concept]
is_not_molecular_abnormality_of_disease
- Wild-Type ATTR Amyloidosis [NCIt concept]
kind_is_domain_of
- Gene_Mutant_Encodes_Gene_Product_Sequence_Variation [NCIt concept]
kind_is_range_of
- Gene_Product_Sequence_Variation_Encoded_By_Gene_Mutant [NCIt concept]

Keyword's position in hierarchy(ies) :

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