Disease: Mastocytosis, Systemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 CausalMutation disease CGI
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients with systemic mastocytosis. 9827716 1998
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE We report on a patient with systemic mastocytosis with an activating point mutation of the c-kit gene. 9829852 1998
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE Using sequence analysis, we have screened cDNAs of the C-KIT domain encompassing codon 510-626 and codon 763-858 in bone marrow (BM) mononuclear cells (MNCs) of patients with myelodysplastic syndromes (n = 28) and patients with systemic mastocytosis (n = 12) for the presence of mutations. 11380399 2001
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. 12091362 2002
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. 12007509 2002
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease LHGDN Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. 12091362 2002
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE As phase 1 clinical trials of MLN518 in AML have shown little toxicity, our data suggest MLN518 is a promising candidate for the treatment of SM or AML with KIT mutations. 15304388 2004
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE We examined expression of SIRPalpha, SIRPalpha ligand CD47, and Src homology 2 domain-containing protein tyrosine phosphatase-1 (SHP-1), a tyrosine phosphatase-type, negative regulator of KIT-dependent signaling, in normal human lung mast cells (HLMC) and neoplastic MC obtained from nine patients with SM. 15784688 2005
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE We developed 2 methods for detection of KIT D816V in SM patients. 17040960 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 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: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE Oncogenic mutations of the receptor tyrosine kinase KIT contribute to the pathogenesis of gastrointestinal stromal tumors, systemic mastocytosis (SM), and some cases of acute myelogenous leukemia (AML). 17065430 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 AlteredExpression disease BEFREE Regarding the cell types involved, TROCI-BM cells were found to express CD117/Kit in all cases of SM and MCL. 16505282 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE These results would support the notion that KIT mutation is a hallmark of adult SM where it targets a pluripotent hematopoietic stem cell, and may contribute to explaining previously observed discrepancies in the literature. 16741248 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease CTD_human Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells. 16597595 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease LHGDN Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells. 16597595 2006
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease BEFREE We conclude that EXEL-0862 is active against KIT activation loop mutants and is a promising candidate for the treatment of patients with SM and other KIT-driven malignancies harboring active site mutations. 16912224 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. 17628645 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 Biomarker disease LHGDN Kit: molecule of interest for the diagnosis and treatment of mastocytosis and other neoplastic disorders. 17691909 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE We examined KIT mutation, chimeric status, and AML1/ETO mRNA concerning mast cells and immature hematopoietic cells of the bone marrow in a patient with systemic mastocytosis with AML1/ETO-positive AML following allogeneic hematopoietic stem cell transplantation (HSCT). 17976525 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemia (MCL), neoplastic mast cells (MC) display the D816V-mutated variant of KIT. 18024392 2007
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease LHGDN Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases. 18931652 2008
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT gene of mast cells, with two concurrent accompanying clonal haematopoietic non-mast cell-lineage disorders, chronic myeloproliferative disease, unclassifiable and precursor B lymphoblastic leukaemia is documented. 18663058 2008
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation. 18931652 2008
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.700 GeneticVariation disease BEFREE In general, conventional therapy for SM is suboptimal, and efforts are under way to develop and employ small molecule drugs that target mutant KIT. 18566536 2008