Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE We found that, while c-Kit protein was readily observed in normal human neonatal and adult melanocytes, the majority of cell lines established from human melanoma samples did not express detectable levels of c-kit mRNA or protein. 1371338 1992
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE To determine whether human tumor cell lines display c-kit receptors, we performed binding experiments with 125I-SCF on a breast carcinoma cell line (Du4475), a gastric carcinoma cell line (KATO III), a melanoma cell line (HTT144), as well as two small cell lung carcinoma cell lines (H69 and H128). 1378316 1992
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE We therefore examined KIT expression and function in human melanomas. 7687762 1993
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE To provide direct evidence that c-KIT plays a role in metastasis of human melanoma, we transfected the c-KIT gene into the c-KIT negative highly metastatic human melanoma cell line A375SM and subsequently analysed its tumorigenic and metastatic potential. 8957075 1996
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Evidence for a functional kit receptor in melanoma, breast, and lung carcinoma cells. 9171936 1997
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Furthermore, exposure of c-KIT-positive melanoma cells in vitro and in vivo to stem cell factor (SCF), the ligand for c-KIT, triggered apoptosis of these cells but not of normal melanocytes. 9810513 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Since AP-2 also regulates other genes that are involved in the progression of human melanoma such as c-KIT, E-cadherin, MMP-2, and p21(WAF-1), we propose that loss of AP-2 is a crucial event in the development of malignant melanoma. 9632718 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Loss of AP-2 results in downregulation of c-KIT and enhancement of melanoma tumorigenicity and metastasis. 9687504 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Immunohistochemistry revealed progressive loss of the AP-2alpha and c-kit proteins in primary melanomas and metastases when compared with naevi. 14517845 2003
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Previously, we have shown that the progression of human melanoma to the metastatic phenotype is associated with loss of AP-2 expression and deregulation of target genes such as MUC18/MCAM, c-KIT, and MMP-2. 12789289 2003
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease LHGDN Immunohistochemical determination of HER-2/neu, c-Kit (CD117), and vascular endothelial growth factor (VEGF) overexpression in malignant melanoma. 14634801 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease LHGDN Roles of stem cell factor/c-Kit and effects of Glivec/STI571 in human uveal melanoma cell tumorigenesis. 15145934 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. 16046538 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE The presence of a c-kit-activating mutation in metastatic malignant melanoma suggests that a small number of melanomas may progress by a somatic mutation of the c-kit gene. 15948115 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Because the majority of the KIT mutations we found in melanoma also occur in imatinib-responsive cancers of other types, imatinib may offer an immediate therapeutic benefit for a significant proportion of the global melanoma burden. 16908931 2006