×
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
Cardio-facio-cutaneous syndrome
0.300
Biomarker
CLINGEN
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
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
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Noonan syndrome and clinically related disorders.
21396583 2011
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
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
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
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
21871821 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
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
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
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
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS .
30414707 2019
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF , MAP2K1, MAP2K2, and KRAS.26842671 2016
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
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
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
UNIPROT
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
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
Cardio-facio-cutaneous syndrome
1.000
Biomarker
MGD
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Neurological complications of cardio-facio-cutaneous syndrome.
18039235 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Tegumentary manifestations of Noonan and Noonan-related syndromes.
24037001 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
AlteredExpression
BEFREE
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF , MEK1, or MEK2.
20358587 2010
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
We recently demonstrated that mice expressing a Braf Q241R mutation, which corresponds to the most frequent BRAF mutation (Q257R) in CFC syndrome , on a C57BL/6J background are embryonic/neonatal lethal, with multiple congenital defects, preventing us from analyzing the phenotypic consequences after birth.
26472072 2015
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
BEFREE
This discovery provided a clue to identification of germline mutations in Kirsten-RAS (KRAS), BRAF and mitogen-activated protein kinase kinase 1 and 2 (MAP2K1/MAP2K2) in patients with CFC syndrome .
18470943 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
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
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
19416762 2009
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations.
27569062 2016
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
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
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
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
25035421 2014