Inactivating KDM6A Gene Mutation

Preferred Label : Inactivating KDM6A Gene Mutation;

NCIt synonyms : Inactivating KABUK2 Gene Mutation; KDM6A Inactivating Mutation; Inactivating KDM6A Mutation; Loss of Function KDM6A Gene Mutation; Inactivating Lysine (K)-Specific Demethylase 6A Gene Mutation; KDM6A Loss of Function Gene Mutation; KDM6A Inactivation; Inactivating UTX Gene Mutation; KDM6A Loss of Function Mutation; KDM6A Gene Inactivation; Loss of Function KDM6A Mutation; Inactivating Lysine Demethylase 6A Gene Mutation; KDM6A Inactivating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the KDM6A gene that inhibits expression or results in the translation of either low-activity or inactive forms of the lysine-specific demethylase 6A protein.;

NCI Metathesaurus CUI : CL1412626;

Details

Origin ID

C175326;

UMLS CUI

C5446438;

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
- KDM6A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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