Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10302
Gene Symbol: SNAPC5
SNAPC5
CUI: C0025202
Disease: melanoma
melanoma 		0.100 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0025202
Disease: melanoma
melanoma 		0.100 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0025202
Disease: melanoma
melanoma 		0.150 CausalMutation CLINVAR

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0025202
Disease: melanoma
melanoma 		0.150 CausalMutation CLINVAR

Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease: melanoma
melanoma 		0.490 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921

2013
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: 5290
Gene Symbol: PIK3CA
PIK3CA
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 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: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 24265155

2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 24265152

2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
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 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: 5894
Gene Symbol: RAF1
RAF1
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR C-RAF mutations confer resistance to RAF inhibitors. 23737487

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