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: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		0.010 AlteredExpression disease BEFREE Recent work further demonstrated that this noncanonical mechanism is conserved with JAK1, which is activated by the autocrine cytokines IL6 and IL10 in activated B-cell-like diffuse large B-cell lymphoma (ABC DLBCL), a cancer type that is particularly difficult to treat and has poor prognosis. 28031410 2017
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 Biomarker disease BEFREE microRNA-23a, -27a and -24 synergistically regulate JAK1/Stat3 cascade and serve as novel therapeutic targets in human acute erythroid leukemia. 27086927 2016
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 GeneticVariation disease BEFREE Overall, we found six JAK1 mutations (four in acute leukemias, one in a lung carcinoma, and one in a breast carcinoma) and three JAK3 mutations (two in breast carcinomas and one in a gastric carcinoma). 18559588 2008
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 GeneticVariation disease BEFREE Although sequencing efforts have uncovered transforming JAK1 mutations in acute leukaemia, they have also identified non-transforming JAK1 mutations. 20868368 2010
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 GeneticVariation disease CLINVAR Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia. 22955920 2012
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 GeneticVariation disease CLINVAR Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 GeneticVariation disease CLINVAR JAK mutations in high-risk childhood acute lymphoblastic leukemia. 19470474 2009
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 GeneticVariation disease CLINVAR Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. 19838194 2009
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 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: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.100 GeneticVariation disease CLINVAR ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon. 20167706 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE Somatic JAK1 mutations are found in 18% of adult precursor T acute lymphoblastic leukemias and somatic JAK3 mutations are found in 3.3% of cutaneous T cell lymphomas. 20697856 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 Biomarker disease BEFREE Activating mutations that target JAK2, as well as JAK1, or CRLF2 and IL7RA, two cytokine receptors with which the JAKs associate in lymphoid cells, have now been identified in a subset of pediatric patients diagnosed with acute lymphoblastic leukemia (ALL), many of whom have a poor prognosis. 23340138 2013
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE But B-ALL with JAK1/JAK2 mutations showed worse survival. 28245838 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 Biomarker disease BEFREE The development of the dual Janus kinase 1/2 (JAK1/2) inhibitor ruxolitinib for the treatment of myeloproliferative neoplasms (MPNs) has led to studies of ruxolitinib in other clinical contexts, including JAK-mutated acute lymphoblastic leukemia (ALL). 26443624 2015
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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE LEF1 high expression is also associated with high mutation rate of Notch1 and JAK1 in T-ALL. 25942645 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia. 28410228 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 GeneticVariation disease BEFREE Finally, we also showed in an in vivo leukemia model that cells expressing JAK1(A634D) are hypersensitive to the antiproliferative and antitumorigenic effect of type I IFN, suggesting that type I IFNs should be considered as a potential therapy for ALL with JAK1-activating mutations. 20167706 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 Biomarker disease BEFREE Our findings implicate dysregulated JAK1 function in ALL, particularly of T cell origin, and point to this kinase as a target for the development of novel antileukemic drugs. 18362173 2008
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 Biomarker disease BEFREE JAK1/2 and BCL2 inhibitors synergize to counteract bone marrow stromal cell-induced protection of AML. 28619982 2017
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.020 GeneticVariation disease BEFREE They performed whole genome sequencing and copy number analysis of a well-characterized APL mouse model to uncover somatic mutations in Jak1 and lysine (K)-specific demethylase 6A (Kdm6a, also known as Utx) in mice with APL and validated the ability of Jak1 mutations to cooperate with PML-RARA in APL. 21436577 2011
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.020 GeneticVariation disease BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group BEFREE A cohort of 142 resected primary NSCLC tissue samples, including 74 adenocarcinoma (ADCC) and 68 squamous cell carcinoma samples, were analyzed. p-JAK1 expression status was determined by immunohistochemistry. 28989534 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group BEFREE Analyzing gene expression signatures in endometrial and stomach adenocarcinomas revealed that tumors with a JAK1 frameshift exhibited reduced expression of interferon response signatures and multiple anti-tumor immune signatures. 29121062 2017