JAK3 Gene Mutation

Preferred Label : JAK3 Gene Mutation;

NCIt synonyms : JAKL Gene Mutation; JAK-3 Gene Mutation; Janus Kinase 3 Gene Mutation; Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) Gene Mutation; Janus Kinase, Leukocyte Gene Mutation; LJAK Gene Mutation; L-JAK Gene Mutation;

NCIt related terms : JAK3;

NCIt definition : A change in the nucleotide sequence of the JAK3 gene.;

NCI Metathesaurus CUI : CL524456;

Details

Origin ID

C136647;

UMLS CUI

C4526855;

Automatic exact mappings (from CISMeF team)
- Janus kinase 3 [OMIM gene]
- Janus kinase 3 [ORDO Gene]
- Janus kinase 3 [COVID-19 Thesaurus concept]
Molecular abnormality of diseases
- Calcifying Epithelial Odontogenic Tumor [NCIt concept]
- Clear Cell Calcifying Epithelial Odontogenic Tumor [NCIt concept]
- Cystic/Microcystic Calcifying Epithelial Odontogenic Tumor [NCIt concept]
- Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma [NCIt concept]
- Non-Calcifying/Langerhans Cell-Rich Calcifying Epithelial Odontogenic Tumor [NCIt concept]
- Recurrent Monomorphic Epitheliotropic Intestinal T-cell Lymphoma [NCIt concept]
- Refractory Monomorphic Epitheliotropic Intestinal T-cell Lymphoma [NCIt concept]
- Small Intestinal Monomorphic Epitheliotropic T-Cell Lymphoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Pediatric Oncology Target Molecular Abnormalities Terminology [NCIt concept]
molecular_abnormality_involves_gene
- JAK3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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