DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Cardio-facio-cutaneous syndrome ×

Gene: BRAF ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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

Biomarker

MGD

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

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

Biomarker

CLINGEN

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

GeneticVariation

UNIPROT

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

Biomarker

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

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

Biomarker

CTD_human

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

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

Biomarker

GENOMICS_ENGLAND

The cardiofaciocutaneous syndrome.

16825433

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

GeneticVariation

UNIPROT

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

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

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

GeneticVariation

BEFREE

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

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

GermlineCausalMutation

ORPHANET

The cardiofaciocutaneous syndrome.

16825433

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CLINGEN

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

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

GeneticVariation

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

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

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

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

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