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 Biomarker disease MGD
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease CLINVAR Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. 12692057 2003
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 Biomarker disease CLINGEN Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 Biomarker disease GENOMICS_ENGLAND HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 Biomarker disease CTD_human Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 Biomarker disease GENOMICS_ENGLAND The cardiofaciocutaneous syndrome. 16825433 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease CLINVAR Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 16804887 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		1.000 GeneticVariation disease BEFREE Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 CausalMutation disease CLINVAR Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 16804887 2006
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 Biomarker disease CLINGEN Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
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 GeneticVariation disease BEFREE Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC. 17567882 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 GeneticVariation disease CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		1.000 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 		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 GeneticVariation 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 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