Gene: BRAF ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GermlineCausalMutation disease ORPHANET The cardiofaciocutaneous syndrome. 16825433 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 CausalMutation disease CLINVAR Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome. 24409384 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 CausalMutation disease CLINVAR We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. 17703371 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 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 		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
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 20186801 2010
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453 2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. 21063443 2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR A cardio-facio-cutaneous syndrome case with tight Achilles tendons. 22876591 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 CausalMutation disease CLINVAR Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. 22301711 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR CFC syndrome mutations in BRAF promote both kinase-activating and kinase-impaired variants. 19376813 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma. 18451217 2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 CausalMutation disease CLINVAR Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. 23026937 2013