rs121913517, KIT

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE CHMFL-KIT-031 showed potent inhibitory efficacy for KIT V559D mediated signaling pathways in cell and anti-tumor activity <i>in vivo</i> (Tumor Growth Inhibition: 68.5%). 29340041 2017
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
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
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573 2014
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