JAK3 Gene - CISMeF

Preferred Label : JAK3 Gene;

NCIt synonyms : Janus Kinase 3 Gene;

NCIt related terms : JAK3;

CISMeF acronym : JAK3;

NCIt definition : This gene plays a role in signal transduction and non-receptor tyrosine protein kinase activity.;

Details

Origin ID

C24530;

UMLS CUI

C1334292;

HGNC gene
- Janus kinase 3 [HGNC gene]
OMIM relation
- Janus kinase 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- JAK3 gene [LOINC component]
- Janus kinase 3 [HGNC gene]
- Janus kinase 3 [OMIM 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_associated_with_disease
- Severe Combined Immunodeficiency [NCIt concept]
gene_encodes_gene_product
- Tyrosine-Protein Kinase JAK3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating JAK3 Gene Mutation [NCIt concept]
- JAK3 Gene Mutation [NCIt concept]
- JAK3 Gene Rearrangement [NCIt concept]
- JAK3 NP_000206.2:p.L857P [NCIt concept]
- JAK3 Protein Variant [NCIt concept]
gene_mapped_to_disease
- Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Activation [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- JAK Family Gene Mutation [NCIt concept]
- JAK3 Fusion Positive [NCIt concept]
- Non-synonymous JAK Family Gene Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

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