Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 Biomarker disease BEFREE Consistent with KIT inhibition, nanomolar concentrations of GSK2606414 and KIRA6 were sufficient to induce cell death in a KIT signaling-dependent mast cell leukemia cell line. 30931942 2019
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE CD34<sup>+</sup>/CD38<sup>-</sup> MCL cells also displayed several surface targets, including CD33, which was homogenously expressed on MCL LSCs in all cases, and the D816V mutant form of KIT. 30953030 2019
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Moreover, it is unclear whether a KIT mutant other than KIT<sup>D816V</sup> in MCL is able to signal on EL. 31484543 2019
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 Biomarker disease BEFREE In this study, RNA-Seq was used to explore the effect of a G4-binding anthraquinone derivative, named AQ1, on the whole-transcriptome profiles of two common cell models for the study of KIT pathways; the human mast cell leukemia (HMC1.2) and the canine mast cell tumor (C2). 30459395 2018
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 AlteredExpression disease BEFREE Herein, we present a rare case of de novo MCL without CD25 expression and KIT mutations. 29458385 2018
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Currently, midostaurin is the only approved TKI as monotherapy for aggressive systemic mastocytosis (SM), SM with associated hematological neoplasm, or mast cell leukemia displaying a KIT mutation as well as in combination with standard intensive chemotherapy for adult patients with newly diagnosed FLT3-mutated acute myeloid leukemia (AML). 28960095 2017
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE In this work, a single nucleotide polymorphism microarray (SNP-A) was used to characterize the cytogenetics of the aberrant mast cells from a patient with acute myeloid leukemia and concomitant mast cell leukemia associated with a KIT D816A mutation. 26865278 2016
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE KIT-activating mutations are major oncogenic drivers in subsets of acute myeloid leukemia (AML), in mast cell leukemia, and in gastrointestinal stromal tumors (GIST). 26358753 2015
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage. 25209843 2015
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and significantly prolonged the survival of mice with aggressive systemic mastocytosis or mast cell leukemia by impeding the expansion and infiltration of mast cells with imatinib-resistant D814Y KIT. 24552773 2014
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell leukemia cell line HMC-1. 23539538 2013
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Recently a duplication of Ser501Ala502 (KIT-Dup-Ser501Ala502) at exon 9 has been reported in two cases of pediatric mastocytosis and one case of adult mast cell leukemia. 23459373 2013
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and to suboptimal responses to diverse therapies, we analyzed 39 KIT D816V mutated patients with indolent SM (n = 10), smoldering SM (n = 2), SM with associated clonal hematologic nonmast cell lineage disorder (SM-AHNMD, n = 5), and aggressive SM (n = 15) or mast cell leukemia (n = 7) with (n = 18) or without (n = 4) AHNMD for additional molecular aberrations. 23958953 2013
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE We present a case of a 56-yr-old female patient with aleukaemic MCL in whom the typical KIT-D816V mutation was not detected. 21362052 2011
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Expression of pSTAT5 was also demonstrable in the KIT D816V-positive mast cell leukemia cell line HMC-1. 19893034 2009
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE We identified novel KIT transcripts in two patients with MCL and two patients with SM with an associated hematological disorder, but not from two patients with SM. 18766971 2008
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 PosttranslationalModification disease LHGDN Endogenous KIT and beta-catenin were found to associate in mast cell leukemia cells, and in vitro kinase assay demonstrated that active KIT phosphorylates tyrosine residues of beta-catenin directly. 17949810 2008
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Confirming previous studies, dasatinib was found to inhibit the TK activity of wild type (wt) KIT and KIT-D816V as well as growth and survival of neoplastic MC and of the MCL cell line, HMC-1. 18024392 2007
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V. 16189265 2006
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. 15972446 2005
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE On the other hand, mutations of the c-KIT gene, which have been found in mast cell leukemia and AML, are clustered in 2 distinct regions, the JM domain and D816 within the activation loop. 11290608 2001
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 AlteredExpression disease BEFREE We investigated the mechanism of constitutive activation of c-kit receptor tyrosine kinase (KIT) found in the FMA3 murine mastocytoma cell line, and compared it with the mechanisms observed in other tumor mast cell lines (the HMC-1 human mast cell leukemia cell line, the RBL-2H3 rat mast cell leukemia cell line, and the P-815 murine mastocytoma cell line). 9209403 1997
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 GeneticVariation disease BEFREE Activating mutations in the Kit receptor tyrosine kinase have been identified in both rodent and human mast cell leukemia. 8962111 1996
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 Biomarker disease BEFREE Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. 7691885 1993
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
0.600 CausalMutation disease CGI