Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE A high allele burden of the KIT D816V mutation in peripheral blood or bone marrow aspirates indicates multi-lineage hematopoietic involvement and has been associated with an aggressive clinical course of systemic mastocytosis. 31018976 2020
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE In this study, we report two cases of AML t(8;21) associated SM that KIT mutation occurred in exon 8 (T417_D419delinsY). 31004601 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. 30044348 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age. 30390314 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis. 30911112 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied. 30849188 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Imatinib has a limited therapeutic role in SM; effective cytoreduction is limited to those with imatinib-sensitive KIT mutations. 30536695 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE We found that in SM 60-99% of the mast cells harboured the KIT D816V mutation. 30975542 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE A screen of two independent AML databases (AML<sup>databases</sup>) revealed remarkable similarities between KIT D816<sup>mut</sup>/CBF<sup>neg</sup> SM-AML and KIT D816<sup>mut</sup>/CBF<sup>neg</sup> AML<sup>databases</sup> (n = 69) with regard to KIT D816<sup>mut</sup> variant allele frequency, mutation profile, aberrant karyotype, and OS suggesting underlying SM in a significant proportion of AML<sup>databases</sup> patients. 30635631 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE Although the pathogenesis of SM is multi-factorial, the acquisition of KIT D816 V is a relatively frequent mutational event and serves as the target of novel agents. 30978435 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE This is typified by midostaurin, which has been approved by the US Food and Drug Administration for mutant FLT3-positive AML and for KIT D816V-positive SM. 31309543 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Skin KIT mutation (OR: 51.9, 95% CI: 3.9-678, P = 0.001) and high bone marrow tryptase (OR: 97.4, 95% CI: 10.3-915, P = 0.001) were strong predictors of SM. 31009132 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE The discovery of KIT mutations as central to the pathobiology of mastocytosis has prompted development of KIT-targeted agents, including imatinib and midostaurin (approved medications for patients with advanced systemic mastocytosis), and drugs in development, like KIT D816V-specific inhibitor avapritinib. 30007460 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 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
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE MCP purity (CD117 and Lin2), maturity (CD34 and FcεRI), interaction receptors and ligands (CD154 and HLA-DR), and SM-specific (CD2 and CD25) markers were measured using flow cytometry. 29223146 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE We analyzed cytogenetic and molecular characteristics of 109 patients (KIT D816V+, n = 102, 94%) with indolent (ISM, n = 26) and advanced SM (n = 83) with (n = 73, 88%) or without AHN. 29341334 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE DCC-2618 is a spectrum-selective pan KIT and PDGFRA inhibitor which blocks KIT D816V and multiple other kinase targets relevant to systemic mastocytosis. 29439183 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE The identification of KIT D816V mutation and the emergence of novel targeted therapies have significantly improved the diagnosis and treatment of systemic mastocytosis. 30545997 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis. 30155614 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE Furthermore, HSCs in liver from mice injected with SM-EVs had increased expression of α-SMA and human KIT, particularly around portal areas, compared with mice injected with EVs from normal individuals, suggesting that SM-EVs can also initiate HSC activation in vivo. 30352845 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE In a phase I trial of avapritinib (formerly BLU-285), which targets D816V mutant KIT, for the treatment of advanced systemic mastocytosis, patients experienced rapid and durable disease control. 29233825 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 Biomarker disease BEFREE Several years later, midostaurin was discovered to be a potent inhibitor of the FLT3 tyrosine kinase and to have activity against mutant forms of KIT proto-oncogene receptor tyrosine kinase, which drive advanced systemic mastocytosis (SM). 29487059 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes. 29331029 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE In summary, we have identified CCL2 as a novel KIT D816V-dependent key regulator of vascular cell migration and angiogenesis in SM. 27856463 2017
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.700 GeneticVariation disease BEFREE Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation. 28520972 2017