rs1057519710, KIT

N. diseases: 22
Disease: melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. 23775962 2013
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468 2011
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure. 20088873 2010
melanoma
CUI: C0025202
Disease: melanoma
0.710 GeneticVariation BEFREE Finally, we found significant growth suppressive effects of sunitinib in two acral melanoma cell lines; one harboring the D820Y mutation and one showing SCF-dependent KIT activation. 19035443 2009
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. 18955458 2008
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.710 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995