rs121913514, KIT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cells FDC-P1; transduced FDC-P1 cells ectopically expressing mutated human KIT N822K oncogene and/or human AML1-ETO oncogene; and human leukemia Kasumi-1 cells expressing both of these oncogenes. 22101339 2011
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Furthermore, dasatinib prolonged lifespan of mice bearing AE and HyC-KIT N822K-coexpressing leukemic cells and exerted synergic effects while combined with cytarabine, thus providing a potential therapeutic for t(8;21) leukemia. 21262832 2011