Gene: BRAF ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. 23026937 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 22495831 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 20523244 2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 19376813 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 GeneticVariation disease CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC. 18456719 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. 18953432 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 GeneticVariation disease CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 GeneticVariation disease CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 GeneticVariation disease CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.770 CausalMutation disease CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004