JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 GeneticVariation group BEFREE While the inactivation mutations that eliminate JAK3 function lead to the immunological disorders such as severe combined immunodeficiency, activation mutations, causing constitutive JAK3 signaling, are known to trigger various types of cancer or are responsible for autoimmune diseases, such as rheumatoid arthritis, psoriasis, or inflammatory bowel diseases. 30929155 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 AlteredExpression group BEFREE Although the first-in-class JAK3 inhibitor tofacitinib blocks JAK3 activity in NKTL both in vitro and in vivo, its clinical utilization in cancer therapy has been limited by the pan-JAK inhibition activity. 29434279 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 Biomarker group BEFREE Janus kinases (JAKs) are a family of four enzymes; JAK1, JAK2, JAK3 and tyrosine kinase 2 (TYK2) that are critical in cytokine signalling and are strongly linked to both cancer and inflammatory diseases. 27774822 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 GeneticVariation group BEFREE Taken together, this study demonstrated the clinical utility of targeted NGS with a focused hotspot cancer gene panel in NSCLCs and identified activating mutations in JAK2 and JAK3 with clinical implications inferred through integrative analysis of cancer genetic, genomic, and pharmacogenomic data. 29082853 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 Biomarker group BEFREE Janus kinases (JAKs) are a family of four enzymes; JAK1, JAK2, JAK3 and tyrosine kinase 2 (TYK2) that are critical in cytokine signalling and are strongly linked to both cancer and inflammatory diseases. 27774824 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 GeneticVariation group BEFREE The finding of recurrent activating JAK3 mutations in patients with T-PLL could enable the use of JAK3 inhibitors to treat patients with this unfavorable malignancy who otherwise have a very poor prognosis. 24446122 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 GeneticVariation group BEFREE The data suggest that some of the JAK1 and JAK3 mutations may to be functional and contributes to cancer development, especially to T-ALL development. 18559588 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 AlteredExpression group BEFREE Differential expression of Janus kinase 3 (JAK3), matrix metalloproteinase 13 (MMP13), heat shock protein 60 (HSP60), and mouse double minute 2 (MDM2) in human colorectal cancer progression using human cancer cDNA microarrays. 16308103 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 AlteredExpression group BEFREE Our findings illustrate the biological importance of JAK3/STAT3 activation in the oncogenesis of colon cancer and provide novel evidence that JAK3 is expressed and contributes to STAT3 activation in this malignant neoplasm. 16192633 2005