Inactivating KMT2D Gene Mutation

Preferred Label : Inactivating KMT2D Gene Mutation;

NCIt synonyms : Inactivating KABUK1 Gene Mutation; Inactivating KMT2D Mutation; KMT2D Inactivation; KMT2D Inactivating Mutation; Inactivating Lysine Methyltransferase 2D Gene Mutation; Inactivating KMS Gene Mutation; Inactivating CAGL114 Gene Mutation; Loss of Function KMT2D Mutation; Inactivating MLL2 Gene Mutation; KMT2D Inactivating Gene Mutation; Inactivating MLL4 Gene Mutation; Inactivating Lysine (K)-Specific Methyltransferase 2D Gene Mutation; KMT2D Loss of Function Mutation; KMT2D Gene Inactivation; Inactivating Myeloid/Lymphoid or Mixed-Lineage Leukemia 2 Gene Mutation; Inactivating ALR Gene Mutation; KMT2D Loss of Function Gene Mutation; Loss of Function KMT2D Gene Mutation; Inactivating TNRC21 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the KMT2D gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine N- methyltransferase 2D protein.;

NCI Metathesaurus CUI : CL1412682;

Details

Origin ID

C175331;

UMLS CUI

C5446441;

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
- KMT2D Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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