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: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 Biomarker disease BEFREE To investigate cell cycle-dependent expression of interferon (IFN)-induced genes and signaling pathways, we examined the modulation of IFN-inducible gene expression and p91 activation, and JAK-1 and Tyk-2 kinases' activation in human Burkitt's lymphoma Daudi cells which were synchronized at different points in the cell cycle progression. 7929242 1994
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 Biomarker disease BEFREE To investigate cell cycle-dependent expression of interferon (IFN)-induced genes and signaling pathways, we examined the modulation of IFN-inducible gene expression and p91 activation, and JAK-1 and Tyk-2 kinases' activation in human Burkitt's lymphoma Daudi cells which were synchronized at different points in the cell cycle progression. 7929242 1994
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 Biomarker disease BEFREE To investigate cell cycle-dependent expression of interferon (IFN)-induced genes and signaling pathways, we examined the modulation of IFN-inducible gene expression and p91 activation, and JAK-1 and Tyk-2 kinases' activation in human Burkitt's lymphoma Daudi cells which were synchronized at different points in the cell cycle progression. 7929242 1994
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.010 Biomarker group BEFREE Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. 7973658 1994
CUI: C0302180
Disease: Condyloma
Condyloma 		0.010 Biomarker disease BEFREE Accordingly, we determined mRNA levels of IFN-gamma and IFN-gamma receptors, levels of IFN-gamma receptor-associated kinases (JAK1 and TYK2) and signalling molecules (signal transducer and activator of transcription-1 [STAT1], STAT3, interferon-responsive-factor-1 [IRF-1] and IRF-2) as well as inhibitors of cytokine signalling (protein inhibitor of activated STAT1 [PIAS1] and suppressor of cytokine signalling 2 [SOCS2]) in biopsies of anal condylomas, LSILs as well as HSILs from HIV-positive individuals by a semi-quantitative reverse transcribed polymerase chain reaction (RT-PCR) method. 11319973 2001
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 AlteredExpression group BEFREE BRCA1-regulated genes associated with breast tumorigenesis included the estrogen-responsive genes MYC and cyclin D1, which are overexpressed in many breast tumors; STAT1 and JAK1, key components of the cytokine signal transduction pathway; the extracellular matrix protein laminin 3A; ID4, an inhibitor of DNA-binding transcriptional activators, which in turn negatively regulates BRCA1 expression; and the prohormone stanniocalcin, expression of which is lost in breast tumor cells. 12032322 2002
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.040 Biomarker disease BEFREE Immunoprecipitation/Western blot analysis showed that HCV core could bind to JAK1/2. 12764155 2003
CUI: C0025202
Disease: melanoma
melanoma 		0.040 Biomarker disease LHGDN The JAK/STAT pathway is not sufficient to sustain the antiproliferative response in an interferon-resistant human melanoma cell line. 12777975 2003
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.320 Biomarker disease BEFREE Because the activation of STAT3 is mediated by the action of an upstream Janus kinase (JAK) kinase, usually JAK1 or JAK2, the activation step for STAT3 might itself be a target for therapy in prostate cancer. 14749471 2004
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE Because the activation of STAT3 is mediated by the action of an upstream Janus kinase (JAK) kinase, usually JAK1 or JAK2, the activation step for STAT3 might itself be a target for therapy in prostate cancer. 14749471 2004
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE Several observations suggest that the interferon system may be of interest in the study of MS development To investigate whether polymorphism in components of the IFN system and the JAK-STAT pathway influence susceptibility to MS, we performed a linkage analysis between polymorphic loci in or close to the IFN gamma, IFN gamma receptor, IFN alpha/beta receptor, JAK 1, STAT 1 and STAT 3 genes in 27 Swedish families with at least two members having MS. Tests for transmission disequilibrium and nonparametric linkage analysis gave negative results. 14760959 2004
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 AlteredExpression disease BEFREE Our data showed that platelet-derived growth factor receptor alpha (PDGFRA), protein kinase C beta1 (PKC beta1) and janus kinase 1 (JAK1) were upregulated, and Sprouty2 and mitogen-activated protein kinase kinase 7 (MKK7) were downregulated in endometriosis stromal cells, suggesting the involvement of the RAS/RAF/MAPK signaling pathway through PDGFRA in endometriosis pathophysiology. 15299092 2004
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.030 GeneticVariation disease BEFREE To determine the role of the Janus tyrosine kinase (JAK)-STAT pathway in NF-kappaB activation by IFN, we examined NF-kappaB activation in JAK1-deficient mutant human fibrosarcoma cells. 15883164 2005
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.030 GeneticVariation disease BEFREE To determine the role of the Janus tyrosine kinase (JAK)-STAT pathway in NF-kappaB activation by IFN, we examined NF-kappaB activation in JAK1-deficient mutant human fibrosarcoma cells. 15883164 2005
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.030 Biomarker disease BEFREE We investigated the functionality of the Jak1 SH2 domain by stably reconstituting Jak1-defective human fibrosarcoma cells U4C with endogenous amounts of Jak1 in which the crucial arginine residue Arg466 within the SH2 domain has been replaced by lysine. 15894543 2005
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.030 Biomarker disease BEFREE We investigated the functionality of the Jak1 SH2 domain by stably reconstituting Jak1-defective human fibrosarcoma cells U4C with endogenous amounts of Jak1 in which the crucial arginine residue Arg466 within the SH2 domain has been replaced by lysine. 15894543 2005
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.320 GeneticVariation group LHGDN Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. 16102578 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.320 GeneticVariation disease BEFREE Two different heterozygous mutations in the Janus kinase 1 (JAK1) gene result in complete loss of the protein in several different prostate cancer cell lines. 16102578 2005
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 GeneticVariation disease BEFREE Two different heterozygous mutations in the Janus kinase 1 (JAK1) gene result in complete loss of the protein in several different prostate cancer cell lines. 16102578 2005
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.160 GeneticVariation group LHGDN We suggest that mutations in the JAK1 and Tyk2 genes may be identified as initial molecular defects in human cancers and autoimmune diseases. 16239216 2005