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: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE Herein, the authors present three cases of CML diagnosed within five years of treatment initiation for Hodgkin's Lymphoma (HL); one of the three patients had CML with atypical variant carrying a rare mutation with BCR-JAK2 fusion. 31366526 2019
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE Ruxolitinib has single-agent activity against HL but does not act against PMBCL with or without JAK2 amplification. 31707975 2019
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE Copy number alterations in programmed cell death ligand 1 (PDL1 or CD274), programmed cell death 1 ligand 2 (PDCD1LG2 or PDL2), and Janus kinase 2 (JAK2) genes (chromosome 9p24.1) characterize Hodgkin lymphoma, resulting in high response rates to programmed cell death 1 (PD-1)/programmed cell death ligand 1 (PD-L1) blockade. 29902298 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE We reported a heterozygous intronic c.1641 + 6 T > C JAK2 variant (rs182123615) found in two independent familial cases diagnosed with gastric lymphoma and Hodgkin lymphoma. 27106701 2016
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 Biomarker disease BEFREE Selective JAK2 inhibition specifically decreases Hodgkin lymphoma and mediastinal large B-cell lymphoma growth in vitro and in vivo. 24610827 2014
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 AlteredExpression disease BEFREE This has been observed in certain pediatric acute lymphoblastic leukemias and adult T-cell lymphoblastic leukemias, and overexpression of JAK2 seems to be important in Hodgkin lymphoma. 22869151 2013
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 Biomarker disease BEFREE Hence, JAK2 and JMJD2C cooperatively remodel the PMBL and HL epigenome, offering a mechanistic rationale for the development of JAK2 and JMJD2C inhibitors in these diseases. 21156283 2010
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 AlteredExpression disease BEFREE Here, we show high expression of JAK2 in the tumor cells of lymphocyte-predominant Hodgkin lymphoma in 85% of cases and activation of JAK2 in 39% of cases. 17652621 2007
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE Fluorescence in situ hybridization analysis did not reveal involvement of the JAK2 gene, located at chromosome band 9p24, and previously shown to be amplified in Hodgkin lymphoma and primary mediastinal diffuse large B-cell lymphoma. 17460466 2007
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 AlteredExpression disease LHGDN In lymphocyte-predominant Hodgkin lymphoma SOCS1 function may thus be frequently impaired by mutations, and this may contribute to high JAK2 expression and activation of the JAK2/STAT6 pathway. 17652621 2007
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease BEFREE JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas. 16321863 2006
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 AlteredExpression disease LHGDN Our data confirm previous cytogenetic results from primary Hodgkin's tumors suggesting an important pathogenic role of REL and JAK2 in this disease. 12478664 2003
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 Biomarker disease BEFREE The potentials of some recently developed new signal transduction inhibitors for the treatment of Hodgkin's lymphomas are discussed in greater detail and comprise agents directed against Janus kinase 2 (JAK 2); Signal Transducers and Activators of Transcription (STAT factors); agents directed against SH 2-domains: the fes/fps oncogene, Ras; protein kinase C (PKC) isotypes and means of inducing radiation or drug-induced apoptosis. 9926251 1998