×
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
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
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
GENOMICS_ENGLAND
The RASopathies.
23875798
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS.
28650561
2017
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Cardio-facio-cutaneous (CFC) syndrome is a developmental disorder caused by constitutively active ERK signaling manifesting mainly from BRAF mutations.
25639853
2015
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
UNIPROT
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
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
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
Biomarker
CLINGEN
The RASopathies.
23875798
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The RASopathies.
23875798
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
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
GeneticVariation
UNIPROT
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome .
16474404
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
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
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CTD_human
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
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
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The cardiofaciocutaneous syndrome.
16825433
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
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
Cardio-facio-cutaneous syndrome
1.000
GermlineCausalMutation
ORPHANET
The cardiofaciocutaneous syndrome.
16825433
2006
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
CFC syndrome mutations in BRAF promote both kinase-activating and kinase-impaired variants.
19376813
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome .
16474404
2006
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Cardio-facio-cutaneous syndrome
0.570
Biomarker
CLINGEN
×
Entrez Id:
3265
Gene Symbol:
HRAS
HRAS
Cardio-facio-cutaneous syndrome
0.570
Biomarker
CTD_human
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
17703371
2007