Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. 30414707 2019
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. 31125963 2019
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. 31217210 2019
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome. 30842599 2019
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Although this mutation is one of the most common mutations in CFC, to our knowledge, this is the first molecularly confirmed BRAF mutation causing CFC in siblings. 29704308 2018
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker disease 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS). 29084544 2017
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Germline mutations in BRAF are a major cause of cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, characteristic craniofacial dysmorphology and dermatologic abnormalities. 28973166 2017
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS. 26842671 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL. 26855057 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE The hECTs were created using human cardiomyocytes obtained by directed differentiation of induced pluripotent stem cells derived from a patient with CFCS due to an activating BRAF mutation. 26784941 2016
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker disease 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker disease CLINGEN Cardio-facio-cutaneous (CFC) syndrome is a developmental disorder caused by constitutively active ERK signaling manifesting mainly from BRAF mutations. 25639853 2015
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease CLINVAR New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. 25035421 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome. 24303953 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease CLINVAR The perinatal presentation of cardiofaciocutaneous syndrome. 24719372 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 GeneticVariation disease BEFREE Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities. 25035421 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease 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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 CausalMutation disease CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001 2013
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker disease 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