STXBP2 Gene - CISMeF

Preferred Label : STXBP2 Gene;

NCIt synonyms : Syntaxin Binding Protein 2 Gene;

NCIt related terms : STXBP2;

CISMeF acronym : STXBP2;

NCIt definition : This gene is involved in intracellular vesicle trafficking.;

Details

Origin ID

C114622;

UMLS CUI

C1420507;

Automatic exact mappings (from CISMeF team)
- Syntaxin-binding protein 2 [OMIM gene]
- syntaxin binding protein 2 [ORDO Gene]
HGNC gene
- syntaxin binding protein 2 [HGNC gene]
OMIM relation
- Syntaxin-binding protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Syntaxin-binding protein 2 [OMIM gene]
- syntaxin binding protein 2 [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]
gene_encodes_gene_product
- Syntaxin-Binding Protein 2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- STXBP2 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 5 [NCIt concept]
gene_mapped_to_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 5 [NCIt concept]
- STXBP2 Deficiency [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Familial Hemophagocytic Lymphohistiocytosis [NCIt concept]
- STXBP2 Deficiency [NCIt concept]

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