Deleterious SMARCA4 Gene Mutation

Preferred Label : Deleterious SMARCA4 Gene Mutation;

NCIt synonyms : Deleterious SNF2 Gene Mutation; Deleterious BRM/SWI2-Related Gene 1 Mutation; Deleterious SNF2-Beta Gene Mutation; Deleterious SWI2 Gene Mutation; Deleterious SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 4 Gene Mutation; Deleterious SNF2L4 Gene Mutation; Deleterious BRG-1 Gene Mutation; Deleterious hSNF2b Gene Mutation; Deleterious BAF190A Gene Mutation; Deleterious BRG1 Gene Mutation; Deleterious SNF2LB Gene Mutation; Deleterious BAF190 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SMARCA4 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL973234;

Details

Origin ID

C162746;

UMLS CUI

C5206790;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- SMARCA4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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