Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Monoclonal mast cell activation syndrome
0.020 GeneticVariation disease BEFREE Gain of function KIT mutations are detected in clonal mast cell diseases, namely mastocytosis and monoclonal mast cell activation syndrome. 31028494 2019
Monoclonal mast cell activation syndrome
0.020 GeneticVariation disease BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749 2018