rs121913517, KIT

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254 2012
melanoma
CUI: C0025202
Disease: melanoma
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
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602 2010
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Imatinib upregulates compensatory integrin signaling in a mouse model of gastrointestinal stromal tumor and is more effective when combined with dasatinib. 20736294 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
melanoma
CUI: C0025202
Disease: melanoma
0.700 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
0.700 CausalMutation CLINVAR Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. 16046538 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. 12960119 2003
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.700 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
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995