rs28934571, TP53

N. diseases: 31
Disease: Adult Liver Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.030 GeneticVariation BEFREE The p53(R249S) mutation is the most prevalent and specific mutation associated with liver cancer development. 30640060 2019
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.030 GeneticVariation 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
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.030 GeneticVariation BEFREE Interestingly, the fraction of droplets positive for R249S was significantly larger in patients with liver cancer (15.3 ± 3.7%) than in controls (0.5 ± 0.3%, P = 7.1E-04). 29749584 2018