JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 CausalMutation group CLINVAR
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group HPO
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE 13 of the 27 JAK2 V617F-positive subjects with SVT were previously known to have a myeloproliferative disease (MPD). 17307838 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE Myeloproliferative disorders (MPD) are stem cell-derived clonal diseases arising as a consequence of acquired aberrations in c-ABL, Janus-activated kinase 2 (JAK2), and platelet-derived growth factor receptor (PDGFR) that generate oncogenic fusion tyrosine kinases (FTK), including BCR/ABL, TEL/ABL, TEL/JAK2, and TEL/PDGFbetaR. 18757400 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. 19338077 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE Myeloproliferative neoplasms 5 years after discovery of JAK2V617F: what is the impact of JAK2 inhibitor therapy? 21599574 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies. 21646683 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPN) are clonal hematological malignancies that are frequently -associated with an acquired somatic mutation in JAK2 (JAK2V617F). 21761323 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2(V617F).The etiology of MPNs remains unknown. 22076943 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients. 22227528 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F. 22513837 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) frequently have an activating mutation in the gene encoding Janus kinase 2 (JAK2). 25538080 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms such as polycythemia vera (PV), which are associated with the JAK mutation V617F, remain incurable despite progress in the use of JAK2 inhibitors for treatment of some of these diseases. 27784744 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity. 28008177 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are characterized by transduction pathway recognized as mutually exclusive molecular abnormalities such as BCR-ABL translocation, JAK2V617F or JAK2 exon 12 mutations, MPL w515, and CALR mutations. 28556926 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes. 28685257 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%-15% of cases are triple negative (TN). 30295334 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. 30828850 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells. 31377025 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. 16408098 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. 17687555 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 mutations and clinical practice in myeloproliferative neoplasms. 18032973 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. 18515659 2008