Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 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
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. 23775962

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR High KIT and PDGFRA are associated with shorter patients survival in gastroenteropancreatic neuroendocrine tumors, but mutations are a rare event. 22160160

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR "Study of the role of ""gatekeeper"" mutations V654A and T670I of c-kit kinase in the interaction with inhibitors by means mixed molecular dynamics/docking approach." 22355224

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Genetic aberrations in primary esophageal melanomas: molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases. 21131919

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Marked response to imatinib mesylate in metastatic acral lentiginous melanoma on the thumb. 20545949

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 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
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature. 19996579

2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure. 20088873

2010