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: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker BEFREE NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. 29084544

2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 GeneticVariation BEFREE LEOPARD syndrome (LS) is an autosomal dominant inherited disorder primarily caused by mutations in the PTPN11, RAF1 and BRAF genes. 27484170

2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker BEFREE To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML. 25423878

2015
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 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: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker BEFREE We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. 19416762

2009