rs121913682, KIT

N. diseases: 52
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
0.030 GeneticVariation BEFREE Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid leukemia. 22145956 2012
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
0.030 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
0.030 GeneticVariation BEFREE <b>Background:</b> The D816V mutation of c-KIT can constitutively activate tyrosine kinase, thereby promote core binding factor acute myeloid leukemia (CBF-AML) cell proliferation and inhibit apoptosis. 31217744 2019