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: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 GeneticVariation disease BEFREE We developed liver cancer cell lines that endogenously expressed a mutant form of TP53 (R249S) or overexpressed mutant forms of STAT3 (D170Y, K348E, and Y640F) or JAK1 (S703I and L910P) and tested the abilities of pharmacologic agents to reduce activity. 31560893 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 GeneticVariation disease BEFREE Although the functional assessment of this novel mutant remains to be completed, JAK1 mutation may contribute to the tumor development in liver cancer. 19239328 2009