Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma. 24710085 2015
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898 2015
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors. 25370471 2015
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. 24918823 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 24576830 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 24586605 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Prognostic value of BRAF mutations in localized cutaneous melanoma. 24388723 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. 24583796 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation disease CLINVAR New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. 25035421 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation disease CLINVAR The perinatal presentation of cardiofaciocutaneous syndrome. 24719372 2014
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. 23273605 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer. 23524406 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease 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
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease 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
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 CausalMutation disease CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease 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