rs121913521, KIT

N. diseases: 12
Disease: Mastocytosis, Systemic ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.020 GeneticVariation BEFREE We investigated the inhibitory activity of the novel tyrosine kinase inhibitor EXEL-0862 against 2 subclones of human mast cell line-1 (HMC-1)-HMC-1.1, harboring the juxtamembrane domain mutation V560G, and HMC-1.2, carrying V560G and the activation loop mutation D816V, found in more than 80% of patients with SM. 16912224 2007