STXBP2 Gene Mutation

Preferred Label : STXBP2 Gene Mutation;

NCIt synonyms : Syntaxin Binding Protein 2 Gene Mutation; MUNC18-2 Gene Mutation; FHL5 Gene Mutation; UNC18B Gene Mutation; UNC18-2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the STXBP2 gene.;

NCI Metathesaurus CUI : CL950640;

Details

Origin ID

C158660;

UMLS CUI

C5203862;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
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
- Familial Hemophagocytic Lymphohistiocytosis Type 5 [NCIt concept]
molecular_abnormality_involves_gene
- STXBP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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