SRSF2 Gene Mutation

Preferred Label : SRSF2 Gene Mutation;

NCIt synonyms : Splicing Factor, Arginine/Serine-Rich 2 Gene Mutation; Serine/Arginine-Rich Splicing Factor 2 Gene Mutation; SFRS2 Gene Mutation; SC35 Gene Mutation; Serine and Arginine Rich Splicing Factor 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SRSF2 gene.;

NCI Metathesaurus CUI : CL520499;

Details

Origin ID

C133698;

UMLS CUI

C4524830;

Automatic exact mappings (from CISMeF team)
- SRSF2 gene mutation [MedDRA Preferred Term]
Molecular abnormality of diseases
- Chronic Neutrophilic Leukemia [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- SRSF2 gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Acute Myeloid Leukemia with SRSF2 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- SRSF2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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