rs121434592, AKT1

N. diseases: 54
Disease: leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly, may be therapeutically exploited to target the PI3K pathway. 19461960 2009
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. 18665177 2008
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation and induces leukaemia in mice. 18504432 2008
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701 2007