Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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
|
0.700 | CausalMutation | CLINVAR | KIT as a therapeutic target in metastatic melanoma. | 21642685 | 2011 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | V559A and N822I double KIT mutant melanoma with predictable response to imatinib? | 21159146 | 2011 | |||||
melanoma
|
0.700 | CausalMutation | CLINVAR | Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. | 19812602 | 2010 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. | 19812602 | 2010 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. | 19671763 | 2009 | |||||
melanoma
|
0.700 | CausalMutation | CLINVAR | Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. | 18936790 | 2008 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | KIT gene mutations and copy number in melanoma subtypes. | 18980976 | 2008 | |||||
melanoma
|
0.700 | CausalMutation | CLINVAR | KIT gene mutations and copy number in melanoma subtypes. | 18980976 | 2008 | |||||
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
|
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
|
0.700 | GeneticVariation | CLINVAR | Somatic activation of KIT in distinct subtypes of melanoma. | 16908931 | 2006 | |||||
melanoma
|
0.700 | CausalMutation | CLINVAR | Somatic activation of KIT in distinct subtypes of melanoma. | 16908931 | 2006 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. | 16046538 | 2005 | |||||
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
|
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
|
0.700 | CausalMutation | CLINVAR | Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. | 11276010 | 2001 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. | 11276010 | 2001 | |||||
melanoma
|
0.700 | CausalMutation | CLINVAR | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 | |||||
melanoma
|
0.700 | GeneticVariation | CLINVAR | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 | |||||
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
|
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 |