WAS wt Allele - CISMeF

Preferred Label : WAS wt Allele;

NCIt synonyms : IMD2; THC; Wiskott-Aldrich Syndrome Gene; WASPA; WASP; Thrombocytopenia 1 (X-Linked) Gene; SCNX; THC1; Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia) Gene; WASP Actin Nucleation Promoting Factor wt Allele;

NCIt definition : Human WAS wild-type allele is located within Xp11.4-p11.21 and is approximately 8 kb in length. This allele, which encodes actin nucleation-promoting factor WAS protein, plays a role in actin cytoskeletal organization. Mutations in this gene are the cause of Wiskott-Aldrich syndrome an X-linked disease characterized by eczema, immune deficiencies and thrombocytopenia.;

GenBank Accession Number : NM_000377;

Details

Origin ID

C52261;

UMLS CUI

C1705616;

Automatic exact mappings (from CISMeF team)
- Genus Vespa (organism) [SNOMED CT concept]
- Thrombocytopenia 1 [OMIM Phenotype]
- WASP actin nucleation promoting factor [ORDO Gene]
- Wasp [ICD-11 Extension code]
- Wasp actin nucleation promoting factor [OMIM gene]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- dronabinol [MeSH Descriptor]
- dronabinol [MeSH concept]
- tetrahydrocannabinol [Substance BNPC]
- wasp, nos [SNOMED Notion]
- wasps [MeSH Descriptor]
- wasps [MeSH concept]
- wiskott-aldrich syndrome [MeSH Descriptor]
False automatic mappings
- Tetrahydrocannabinol [ICD-11 Extension code]
OMIM relation
- Wasp actin nucleation promoting factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Wiskott-Aldrich Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.4-p11.21 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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