Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.810 GeneticVariation BEFREE Two brothers with clinical features of CFC and mutations in BRAF (c.770A > G, p.Gln257Arg) are described. 29704308 2018
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR The perinatal presentation of cardiofaciocutaneous syndrome. 24719372 2014
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR To define the pathogenesis and to develop a potential therapeutic approach in CFC syndrome, we here generated new knockin mice (here Braf(Q241R/+)) expressing the Braf Q241R mutation, which corresponds to the most frequent mutation in CFC syndrome, Q257R. 25035421 2014
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816 2013
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 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
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. 22301711 2012
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 22495831 2012
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453 2011
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 19376813 2009
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871 2009
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719 2008
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 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
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 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
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
dbSNP: rs180177035
rs180177035
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		C 0.810 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006