Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.800 GenomicAlterations CGI

Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GenomicAlterations CGI

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GenomicAlterations CGI

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0025202
Disease: melanoma
melanoma 		0.600 GenomicAlterations CGI

Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0025202
Disease: melanoma
melanoma 		0.400 GenomicAlterations CGI

Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0025202
Disease: melanoma
melanoma 		0.340 GenomicAlterations CGI

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 26678033

2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CGI

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065

2010
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 24576830

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer. 23524406

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 24586605

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. 23237741

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR In summary, we have identified a group of melanomas with low-activity BRAF mutations that are reliant upon CRAF-mediated survival activity. 18794803

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. 23248257

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR [Long-term results following surgery or radioiodine treatment of solitary autonomous adenoma of the thyroid gland]. 2493360

1989
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Prognostic value of BRAF mutations in localized cutaneous melanoma. 24388723

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Here we report BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers. 12068308

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 24583796

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013
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