JAK2 Gene Mutation

Preferred Label : JAK2 Gene Mutation;

NCIt synonyms : JAK2 Mutation; JAK2 Gene Variant; Janus Kinase 2 (A Protein Tyrosine Kinase) Gene Variant; Janus Kinase 2 Gene Variant; JTK10 Gene Mutation; JAK-2 Gene Mutation; Janus Kinase 2 Gene Mutation;

NCIt related terms : JAK2;

NCIt definition : Mutation of the Janus 2 kinase gene at chromosome 9. It is seen in most patients with polycythemia vera and less frequently in other myeloproliferative neoplasms.;

Details

Origin ID

C84255;

UMLS CUI

C2827348;

Automatic exact mappings (from CISMeF team)
- JAK-2 mutation [MedDRA LLT]
- Janus kinase 2 [OMIM gene]
- Janus kinase 2 [ORDO Gene]
- Janus kinase 2 [COVID-19 Thesaurus concept]
Molecular abnormality of diseases
- Accelerated Phase Primary Myelofibrosis [NCIt concept]
- Blast Phase Primary Myelofibrosis [NCIt concept]
- Chronic Phase Primary Myelofibrosis [NCIt concept]
- Early/Prefibrotic Primary Myelofibrosis [NCIt concept]
- Essential Thrombocythemia [NCIt concept]
- Overt Primary Myelofibrosis [NCIt concept]
- Post-Essential Thrombocythemia Myelofibrosis [NCIt concept]
- Primary Myelofibrosis [NCIt concept]
- Recurrent Post-Essential Thrombocythemia Myelofibrosis [NCIt concept]
- Recurrent Primary Myelofibrosis [NCIt concept]
- Refractory Post-Essential Thrombocythemia Myelofibrosis [NCIt concept]
- Refractory Primary Myelofibrosis [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]
gene_mutant_encodes_gene_product_sequence_variation
- JAK2 NP_004963.1:p.E985K [NCIt concept]
- JAK2 NP_004963.1:p.G935R [NCIt concept]
- JAK2 NP_004963.1:p.I960V [NCIt concept]
- JAK2 NP_004963.1:p.M929I [NCIt concept]
- JAK2 NP_004963.1:p.R938L [NCIt concept]
- JAK2 NP_004963.1:p.T875N [NCIt concept]
- JAK2 NP_004963.1:p.V617F [NCIt concept]
- JAK2 NP_004963.1:p.V617X [NCIt concept]
- JAK2 NP_004963.1:p.Y931C [NCIt concept]
- JAK2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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