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 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.430 CausalMutation disease CGI
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.340 CausalMutation disease CGI
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 Biomarker disease BEFREE <b>Expert commentary</b>: Upadacitinib has displayed a rapid and favorable efficacy profile in RA but despite being a selective JAK1 inhibitor appears to have a similar safety profile to less-selective Jakinibs.Longer term safety data are awaited. 30394138 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 Biomarker disease BEFREE <b>Purpose:</b> Tofacitinib citrate is an oral Janus kinase 1/3 inhibitor approved for rheumatoid arthritis, ulcerative colitis, and active psoriatic arthritis. 31581859 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE <i>JAK1</i> expression was analyzed via the Oncomine database and Tumor IMmune Estimation Resource site. 31790361 2019
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.100 AlteredExpression group BEFREE Myeloproliferative neoplasms with myelofibrosis (MPN-MF) demonstrate constitutive activation of Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling that responds to treatment with the JAK1 and 2 kinase inhibitor (JAKi) ruxolitinib. 27677740 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.030 Biomarker phenotype BEFREE Thrombocytopenia is a poor prognostic feature and limits use of Janus kinase 1 (JAK1)/Janus kinase 2 (JAK2) inhibitor ruxolitinib. 29522138 2018
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.030 GeneticVariation group BEFREE B-cell lymphomas evolved in 4 (5.8%) of 69 patients receiving JAK1/2 inhibition compared with 2 (0.36%) of 557 with conventional treatment (16-fold increased risk). 29907599 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.100 Biomarker group BEFREE Myeloproliferative neoplasms (MPNs) are developing resistance to therapy by JAK1/2 inhibitor ruxolitinib. 30571852 2019
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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.130 AlteredExpression disease BEFREE Jak-1, -2, and -3 as well as Stat-1 and -3 were expressed at higher levels in patients with diabetic nephropathy than in control subjects. 19017763 2009
CUI: C1512259
Disease: Grade II Meningioma
Grade II Meningioma 		0.010 Biomarker disease BEFREE JAK1, p-JAK1, STAT3, p-STAT3, and VEGF showed high expression in grade I and grade II meningioma. 20052595 2010
CUI: C2347750
Disease: Adult Grade II Meningioma
Adult Grade II Meningioma 		0.010 Biomarker disease BEFREE JAK1, p-JAK1, STAT3, p-STAT3, and VEGF showed high expression in grade I and grade II meningioma. 20052595 2010
CUI: C2347759
Disease: Childhood Grade II Meningioma
Childhood Grade II Meningioma 		0.010 Biomarker disease BEFREE JAK1, p-JAK1, STAT3, p-STAT3, and VEGF showed high expression in grade I and grade II meningioma. 20052595 2010
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.030 GeneticVariation disease BEFREE JAK1 and JAK3 mutations are unlikely involved in the leukemogenesis of ATLL. 20697856 2010
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 GeneticVariation disease BEFREE JAK1 and JAK3 mutations are unlikely involved in the leukemogenesis of ATLL. 20697856 2010
CUI: C0004096
Disease: Asthma
Asthma 		0.020 GeneticVariation disease BEFREE JAK-1 rs2780895 gene polymorphism is associated with susceptibility to asthma. 21827323 2011
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.060 AlteredExpression disease BEFREE JAK1 expression was higher in NSCLC tissues than in normal lung tissues (P < 0.01). 21861134 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.090 Biomarker phenotype BEFREE JAK1 knockdown in A549 cells significantly inhibited cell proliferation and invasion while promoting cell arrest at G0/G1 phase (all P < 0.05). 21861134 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.160 GeneticVariation group BEFREE Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. 23611997 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.100 Biomarker disease BEFREE JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. 25189727 2014
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.100 Biomarker disease BEFREE JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. 25189727 2014