Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN 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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC. 18456719

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker CLINGEN Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007