Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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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 |
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A | 0.700 | CausalMutation | CLINVAR | Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. | 18936790 | 2008 |
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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 |
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G | 0.700 | CausalMutation | CLINVAR | The GIST of targeted therapy for malignant melanoma. | 24531699 | 2014 |
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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 |
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A | 0.700 | CausalMutation | CLINVAR | KIT as a therapeutic target in metastatic melanoma. | 21642685 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. | 16046538 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. | 19812602 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. | 11276010 | 2001 |
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C | 0.700 | GeneticVariation | CLINVAR | Somatic activation of KIT in distinct subtypes of melanoma. | 16908931 | 2006 |
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C | 0.700 | GeneticVariation | CLINVAR | KIT gene mutations and copy number in melanoma subtypes. | 18980976 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. | 17372901 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | KIT gene mutations and copy number in melanoma subtypes. | 18980976 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. | 24755198 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 |
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A | 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 |
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A | 0.700 | CausalMutation | CLINVAR | Somatic activation of KIT in distinct subtypes of melanoma. | 16908931 | 2006 |
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|
|
C | 0.700 | GeneticVariation | CLINVAR | Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. | 11276010 | 2001 |
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|
|
C | 0.700 | GeneticVariation | CLINVAR | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 |
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A | 0.700 | CausalMutation | CLINVAR | Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. | 19671763 | 2009 |
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C | 0.700 | GeneticVariation | CLINVAR | Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. | 19812602 | 2010 |
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|
|
C | 0.700 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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|
|
C | 0.700 | GeneticVariation | CLINVAR | Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. | 15790786 | 2005 |
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|
|
G | 0.700 | CausalMutation | CLINVAR | Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. | 24661573 | 2014 |