BTK Gene - CISMeF

Preferred Label : BTK Gene;

NCIt synonyms : BTK; Bruton Tyrosine Kinase Gene;

CISMeF acronym : BTK;

NCIt definition : This gene is involved in both signaling and B-cell development.;

Details

Origin ID

C75013;

UMLS CUI

C1412841;

Automatic exact mappings (from CISMeF team)
- Agammaglobulinaemia Tyrosine Kinase [MeSH Descriptor]
- BTK gene [LOINC component]
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
- Bruton tyrosine kinase [ORDO Gene]
- Bruton tyrosine kinase [LOINC component]
HGNC gene
- Bruton tyrosine kinase [HGNC gene]
OMIM relation
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BTK gene [LOINC component]
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
- Bruton tyrosine kinase [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Tyrosine-Protein Kinase BTK [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- BTK C481 Resistance Mutation [NCIt concept]
- BTK Gene Mutation [NCIt concept]
- BTK Inhibitor Resistant Gene Mutation [NCIt concept]
- BTK NM_000061.3:c.1441T>A [NCIt concept]
- BTK NM_000061.3:c.1442G>C [NCIt concept]
- BTK NM_000061.3:c.1442_1443delinsCT [NCIt concept]
- BTK NP_000052.1:p.C481S [NCIt concept]
- BTK NP_000052.1:p.C481X [NCIt concept]
- BTK Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- X-Linked Agammaglobulinemia [NCIt concept]
gene_mapped_to_disease
- X-Linked Agammaglobulinemia [NCIt concept]
gene_plays_role_in_process
- B-Cell Differentiation [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- Bruton's Tyrosine Kinase Measurement [NCIt concept]
- Free Bruton's Tyrosine Kinase Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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