Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.540 GeneticVariation 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
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.540 GeneticVariation BEFREE PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.540 GeneticVariation BEFREE Features considered distinctive for CS were also found to be associated with BRAF or MEK mutations. 17704260

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.540 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