Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 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
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 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
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Major response to imatinib mesylate in KIT-mutated melanoma. 18421059

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Major response to imatinib mesylate in KIT-mutated melanoma. 18421059

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913235
rs121913235
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998