Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 GeneticVariation disease BEFREE A single heterozygous KIT exon 11 base change resulting in an E583K mutation was discovered in 12 of 18 (66%) examples of MCC. 23621836 2013
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 AlteredExpression disease BEFREE Primary cutaneous neuroendocrine tumor (atypical carcinoid) expressing KIT and PDGFRA with myoepithelial differentiation: a case report with immunohistochemical and molecular genetic studies. 23573331 2013
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 Biomarker disease BEFREE Association of Merkel cell polyomavirus infection with tumor p53, KIT, stem cell factor, PDGFR-alpha and survival in Merkel cell carcinoma. 20949558 2011
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 AlteredExpression disease BEFREE Blockade of KIT and the downstream signaling cascade at various levels results in inhibition of Merkel cell carcinoma growth in vitro, suggesting targets for therapy of this cancer. 20857409 2011
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 GeneticVariation disease BEFREE The presence of the M541L KIT variation in MCC warrants further studies for its role in the pathogenesis of this tumor. 21498700 2011
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 GeneticVariation disease BEFREE Because some Merkel cell carcinomas express the receptor tyrosine kinase KIT, we aimed to evaluate the correlation of KIT expression with the outcome and the presence of activating mutations in the KIT gene in Merkel cell carcinoma. 20594584 2010
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 GeneticVariation disease LHGDN We found that only 53% of cases of Merkel cell carcinoma expressed KIT, which was mostly seen as diffuse weak staining, and SCF expression was observed only in 31% of cases. 18084259 2008
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 AlteredExpression disease BEFREE We found that only 53% of cases of Merkel cell carcinoma expressed KIT, which was mostly seen as diffuse weak staining, and SCF expression was observed only in 31% of cases. 18084259 2008
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.080 AlteredExpression disease LHGDN We confirm that the majority of primary MCCs express c-kit and further find that metastases are positive for the KIT receptor as well. 15618926 2004