rs121913521, KIT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.740 GeneticVariation BEFREE Although targeted therapy involving tyrosine kinase inhibitors (TKIs) such as imatinib mesylate is highly effective for gastrointestinal stromal tumor carrying V560G c-kit mutation, it does not show much potential for targeting wild-type KIT (WT-KIT). 26428235 2016
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.020 GeneticVariation BEFREE Systemic mastocytosis with <i>KIT</i> V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. 28439288 2017
Skin lesion
CUI: C0037284
Disease: Skin lesion
0.010 GeneticVariation BEFREE To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the <i>KIT</i> V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission. 28439288 2017
leukemia
CUI: C0023418
Disease: leukemia
0.020 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019