WAS Gene Mutation

Preferred Label : WAS Gene Mutation;

NCIt synonyms : Wiskott-Aldrich Syndrome Gene Mutation; WASPA Gene Mutation; WASP Actin Nucleation Promoting Factor Gene Mutation; WASP Gene Mutation;

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

Details

Origin ID

C43289;

UMLS CUI

C1711431;

Automatic exact mappings (from CISMeF team)
- Gene mutation [MedDRA Preferred Term]
- Mutations [LOINC Class]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Wiskott-Aldrich Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- WAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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