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 "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 CausalMutation CLINVAR KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976

2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976

2008
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 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 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
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 Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 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
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 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
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 16741525

2006
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
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 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 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 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 In this study, we investigated a group of anal melanomas for the presence of BRAF, NRAS, KIT and PDGFRA mutations. 17372901

2007
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR In this study, we investigated a group of anal melanomas for the presence of BRAF, NRAS, KIT and PDGFRA mutations. 17372901

2007