WAS Gene - CISMeF

Preferred Label : WAS Gene;

NCIt synonyms : Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia) Gene; WAS;

CISMeF acronym : WAS;

NCIt definition : This gene is involved in signal transduction and plays a role in cell communication and organization.;

Details

Origin ID

C43236;

UMLS CUI

C1421478;

Automatic exact mappings (from CISMeF team)
- AS gene [LOINC component]
- Am Ag [LOINC component]
- Gene [LOINC component]
- Gene (substance) [SNOMED CT concept]
- Genes [LOINC component]
- Genes [UNESCO concept]
- Immune suppressor gene (substance) [SNOMED CT concept]
- Structural gene [FMA entity]
- WAS gene [LOINC component]
- Wasp actin nucleation promoting factor [OMIM gene]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- gene [Blood Transfusion thesaurus concept]
- gene [COVID-19 Thesaurus concept]
- genes [MeSH Descriptor]
- genes [MeSH concept]
- genes, vif [MeSH Descriptor]
- genetic material [ORDO Gene]
False automatic mappings
- BES [MeSH concept]
- BES [MeSH Supplementary Concept]
- Benign exophthalmos syndrome [ORDO Disease]
- Immune suppression [OMIM Phenotype]
- bes [Substance BNPC]
- is (tumor staging) [SNOMED CT concept]
HGNC gene
- WASP actin nucleation promoting factor [HGNC gene]
OMIM relation
- Wasp actin nucleation promoting factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- WAS gene [LOINC component]
- WASP actin nucleation promoting factor [HGNC gene]
- Wasp actin nucleation promoting factor [OMIM 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]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Wiskott-Aldrich Syndrome [NCIt concept]
gene_encodes_gene_product
- Wiskott-Aldrich Syndrome Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- WAS Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- WAS Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Neutropenia, Severe Congenital, X-Linked [NCIt concept]
- Thrombocytopenia 1 [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Signal Transduction [NCIt concept]
genetic_biomarker_related_to
- Reduced WAS Protein Expression [NCIt concept]
- Thrombocytopenia 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
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documents for patients