Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE CXCR4+ patients in the t(8;21) AML without KIT mutation group had a significantly worse 3-year OS than CXCR4- patients (n = 44; 76.1% vs. 100.0%, P = 0.01). 27135782 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Next-generation sequencing with a myeloid gene panel in core-binding factor AML showed KIT activation loop and TET2 mutations predictive of outcome. 27391574 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE The poor prognostic impact of c-KIT mutation in t(8;21) AML patients only applies in a specific patient subgroup without WT1 mutations. 25932436 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 AlteredExpression disease BEFREE DNA microarray and quantitative polymerase chain reaction screening for differentially expressed genes between KD clones and non-KD control cells revealed significant up-regulation of the tyrosine kinase receptor, KIT, hyperactive mutations of which are often found in AML. 25928165 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Therefore, with regard to c-KIT mutation, CBF-AML is a heterogeneous disease. c-KIT mutations have a strong adverse effect on the relapse and survival of adult t(8;21) AML patients. 25449688 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE New data on incidence of c-KIT mutations in various AML subtypes as well as new variations of c-KIT mutations in the exon 8 are presented. 23511494 2013
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE AML with isolated trisomy 4 is rare and associated with high bone marrow blast counts and an intermediate to poor prognosis.KIT mutations are uncommon. 22338050 2012
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Reactivating PP2A by FTY720 as a novel therapy for AML with C-KIT tyrosine kinase domain mutation. 22109829 2012
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Prevalence and prognostic significance of KIT mutations in pediatric patients with core binding factor AML enrolled on serial pediatric cooperative trials for de novo AML. 20056794 2010
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE FLT3 and KIT mutated pediatric acute myeloid leukemia (AML) samples are sensitive in vitro to the tyrosine kinase inhibitor SU11657. 20435347 2010
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. 16254134 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 Biomarker disease BEFREE We suggest that patients with core-binding factor AML should be screened for mutKIT at diagnosis for both prognostic and therapeutic purposes, given that activated KIT potentially can be targeted with novel tyrosine kinase inhibitors. 16921041 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 AlteredExpression disease BEFREE Lack of KIT or FMS internal tandem duplications but co-expression with ligands in AML. 14654075 2004
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Sequence analysis of exons 2, 8, 10, 11, and 17 of the c-Kit receptor did not reveal structural alterations as previously described in a subset of AML cases. 12480706 2003
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 AlteredExpression disease BEFREE CD34 and CD117 are overexpressed in AML and may be valuable to detect minimal residual disease. 12008077 2002