Inactivating SETD2 Gene Mutation

Preferred Label : Inactivating SETD2 Gene Mutation;

NCIt synonyms : Inactivating SET2 Gene Mutation; SETD2 Deficient; SETD2 Loss; SETD2 Loss of Function Mutation; Inactivating HBP231 Gene Mutation; Inactivating p231HBP Gene Mutation; Inactivating HYPB Gene Mutation; Inactivating HIF-1 Gene Mutation; SETD2 Inactivating Gene Mutation; SETD2 Deficiency; Inactivating HIP-1 Gene Mutation; Inactivating LLS Gene Mutation; Inactivating SET Domain Containing 2 Gene Mutation; Inactivating KMT3A Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SETD2 gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine methyltransferase SETD2 protein.;

NCI Metathesaurus CUI : CL562900;

Details

Origin ID

C156048;

UMLS CUI

C4744533;

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
- SETD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients