×
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: 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: 5604
Gene Symbol: MAP2K1
MAP2K1
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: 5605
Gene Symbol: MAP2K2
MAP2K2
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621 2006
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
17981815 2008
×
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
17981815 2008
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
In conclusion, our data underscore the important role of RAS in the pathogenesis of the group of related disorders including NS, CFCS , and CS, and provide clues to the high phenotypic variability of patients with germline KRAS mutations.
20949621 2011
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Cardio-facio-cutaneous syndrome
0.570
Biomarker
CLINGEN
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
21063443 2011
×
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
17366577 2007
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
Mutations were identified in seven patients with CFC (two in BRAF, one in KRAS , one in MEK1, two in MEK2 and one in SOS1).
18456719 2008
×
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
Mutations were identified in seven patients with CFC (two in BRAF, one in KRAS, one in MEK1, two in MEK2 and one in SOS1).
18456719 2008
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
25049390 2014
×
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Cardio-facio-cutaneous syndrome
0.330
Biomarker
CLINGEN
Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome .
18651097 2008
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Cardio-facio-cutaneous syndrome
0.330
Biomarker
CLINGEN
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.
26918529 2016
×
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Cardio-facio-cutaneous syndrome
0.330
Biomarker
CLINGEN
Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless.
20133692 2010
×
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: 6654
Gene Symbol: SOS1
SOS1
Cardio-facio-cutaneous syndrome
0.330
Biomarker
CLINGEN
The SOS1 E433K mutation, identified in a patient diagnosed with CFC , has previously been reported in patients with NS.
18456719 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
Cardio-facio-cutaneous syndrome
0.500
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Cardio-facio-cutaneous syndrome
0.330
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
Cardio-facio-cutaneous syndrome
0.310
Biomarker
CLINGEN
These results suggest that clinical manifestations in SHOC2 mutation-positive patients partially overlap with those in patients with typical Noonan or CFC syndrome and show that easily pluckable/loose anagen hair is distinctive in SHOC2 mutation-positive patients.
20882035 2010
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Cardio-facio-cutaneous syndrome
0.800
Biomarker
CLINGEN
We further defined the phenotypic spectrum associated with KRAS missense mutations and provided the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 or MEK1 alteration, respectively.
17056636 2007