rs121913506, KIT

N. diseases: 24
Disease: Leukemia, Mast-Cell ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
0.020 GeneticVariation BEFREE Recently, we reported that in MCL, KIT with mutations (D816V, human; D814Y, mouse) traffics to endolysosomes (EL), where it can then initiate oncogenic signaling. 31484543 2019
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
0.020 GeneticVariation BEFREE The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines. 9714703 1998