Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. 12692057

2003
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer. 17496923

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 CausalMutation CLINVAR Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma. 18451217

2008