JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE Ruxolitinib is a JAK1/2 inhibitor approved for the treatment of myelofibrosis (MF) and polycythemia vera (PV). 31711337 2020
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 AlteredExpression disease BEFREE We found that JAK1/2 or JAK2 inhibition prevented the IL-6 activation of STAT3 and AKT pathways in polycythemia vera and HEL cells. 30571852 2019
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 GeneticVariation disease BEFREE The discovery of a JAK2 point mutation (JAK2 V617F) as the main cause of polycythemia vera lead to the development and FDA approval of a JAK1/2 inhibitor, ruxolitinib, in 2011. 28277287 2017
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE MAJIC (ISRCTN61925716) is a randomized phase 2 trial of ruxolitinib (JAK1/2 inhibitor) vs best available therapy (BAT) in ET and polycythemia vera patients resistant or intolerant to HC. 29074595 2017
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE Since its approval in 2011, the Janus kinase 1/2 (JAK1/2) inhibitor ruxolitinib has evolved to become the centerpiece of therapy for myelofibrosis (MF), and its use in patients with hydroxyurea resistant or intolerant polycythemia vera (PV) is steadily increasing. 28500170 2017
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE Expert opinion: The JAK1/JAK2 inhibitor ruxolitinib has clearly enriched the therapeutic armamentarium of MPN and is now licenced for more than five years in MF and over three years as second line in PV. 29134817 2017
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE The phase 3 RESPONSE trial evaluated the JAK1/JAK2 inhibitor ruxolitinib (n=110) versus best available therapy (BAT; n=112) in patients with PV who were hydroxyurea-resistant/intolerant. 28193568 2017
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 Biomarker disease BEFREE RESPONSE is an open-label phase 3 study evaluating the Janus kinase 1/Janus kinase 2 inhibitor ruxolitinib versus best available therapy for efficacy/safety in hydroxyurea-resistant or intolerant patients with polycythemia vera. 27102499 2016
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 GeneticVariation disease BEFREE JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. 16239216 2005
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 GeneticVariation disease CLINVAR JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. 16239216 2005
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.490 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 Biomarker disease BEFREE Therefore, our novel findings indicated that CUEDC2 interacted with SOCS1 to suppress SOCS1's ubiquitin-mediated degradation, JAK1-STAT3 pathway activation and leukaemogenesis of AML. 29991678 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 Biomarker disease BEFREE Moreover, the JAK1/2 inhibitor ruxolitinib restored sensitivity to the BCL2 inhibitor venetoclax in AML patient cells ex vivo in different model systems and in vivo in an AML xenograft mouse model. 28619982 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 GeneticVariation disease CLINVAR Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression. 21436584 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 GeneticVariation disease CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 GeneticVariation disease BEFREE This is the first report to demonstrate somatic JAK1 mutations in AML and suggests that JAK1 mutations may function as disease-modifying mutations in AML pathogenesis. 18160671 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.430 CausalMutation disease CGI
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.340 GeneticVariation disease BEFREE Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia. 28410228 2017
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.340 GeneticVariation disease BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.340 GeneticVariation disease BEFREE Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.340 AlteredExpression disease LHGDN Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. 18362173 2008
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.340 CausalMutation disease CGI
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.320 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.320 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018