Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 GeneticVariation disease CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 2003
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. 19404918 2009
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 GeneticVariation disease CLINVAR Acute effects of some volatile nitrites on motor performance and lethality in mice. 2872605 1986
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011 2012
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
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808 2011
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR These results suggest that BRAF mutation in melanoma is most likely to occur prior to the development of metastatic disease. 16096377 2005
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 GeneticVariation disease 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
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947 2013
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237 2012
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR NRAS and BRAF mutation frequency in primary oral mucosal melanoma. 21750866 2011
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422 2012
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation disease 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
CUI: C0025202
Disease: melanoma
melanoma 		1.000 GeneticVariation 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 GeneticVariation disease CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073 2007
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation disease CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation disease CLINVAR Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. 21871821 2012
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation disease CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation disease CLINVAR Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 19416762 2009
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation disease CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073 2007