BTK Gene Mutation

Preferred Label : BTK Gene Mutation;

NCIt synonyms : ATK Gene Mutation; PSCTK1 Gene Mutation; BPK Gene Mutation; AGMX1 Gene Mutation; Bruton Agammaglobulinemia Tyrosine Kinase Gene Mutation; MGC126261 Gene Mutation; MGC126262 Gene Mutation; Bruton Tyrosine Kinase Gene Mutation; XLA Gene Mutation; IMD1 Gene Mutation; AT Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BTK gene.;

NCI Metathesaurus CUI : CL520321;

Details

Origin ID

C132254;

UMLS CUI

C4329437;

Automatic exact mappings (from CISMeF team)
- Gene mutation [MedDRA Preferred Term]
- Mutations [LOINC Class]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- BTK NP_000052.1:p.C481X [NCIt concept]
- BTK Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BTK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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