Deleterious ATRX Gene Mutation

Preferred Label : Deleterious ATRX Gene Mutation;

NCIt synonyms : Deleterious RAD54 Homolog Gene Mutation; Deleterious RAD54 Gene Mutation; Deleterious ZNF-HX Gene Mutation; Deleterious ATRX, Chromatin Remodeler Gene Mutation; Deleterious XNP Gene Mutation; Deleterious ATRX Mutation; Deleterious Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation; Deleterious RAD54L Gene Mutation; Deleterious XH2 Gene Mutation;

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

NCI Metathesaurus CUI : CL1405447;

Détails

Origin ID

C171073;

UMLS CUI

C5400848;

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
- ATRX Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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