Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		0.800 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.800 CausalMutation CLINVAR

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0025202
Disease: melanoma
melanoma 		0.500 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: 2200
Gene Symbol: FBN1
FBN1
CUI: C0025202
Disease: melanoma
melanoma 		0.100 CausalMutation CLINVAR

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: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation CLINVAR Melanoma cells expressing mutant ERBB4 had reduced cell growth after shRNA-mediated knockdown of ERBB4 or treatment with the ERBB inhibitor lapatinib. 19718025

2009
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: 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: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib. 22743296

2012
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: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. 21156289

2010
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: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation CLINVAR Acute effects of some volatile nitrites on motor performance and lethality in mice. 2872605

1986
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009