rs121913514, KIT

N. diseases: 12
Disease: Core binding factor acute myeloid leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE Previous studies have indicated similar proliferation and apoptosis between N822K and D816V mutations.The current study aims to determine the occurrence and potential functions of N822K mutation-induced c-KIT activation in AML cells, and explore possible mechanisms of poor prognosis of CBF-AML. 31217744 2019
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE KIT mutations, such as N822K, have been found in 30% of core binding factor-AML (CBF-AML) patients. 31484543 2019
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE D816V mutation in the KIT gene activation loop has greater cell-proliferative and anti-apoptotic ability than N822K mutation in core-binding factor acute myeloid leukemia. 28506695 2017
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE In the present study, we analyzed the prognostic significance of each KIT mutation (D816, N822K, and other mutations) in Japanese patients with CBF-AML. 28762080 2017