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: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker CLINGEN LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker CLINGEN Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker CLINGEN We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. 19416762

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker CLINGEN Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009