Deleterious SPOP Gene Mutation

Preferred Label : Deleterious SPOP Gene Mutation;

NCIt synonyms : Deleterious SPOP Mutation; Deleterious Speckle Type BTB/POZ Protein Gene Mutation; Deleterious BTBD32 Gene Mutation; Deleterious Speckle-Type POZ Protein Gene Mutation; Deleterious TEF2 Gene Mutation;

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

NCI Metathesaurus CUI : CL1905448;

Details

Origin ID

C191948;

UMLS CUI

C5784788;

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

Keyword's position in hierarchy(ies) :

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