Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker 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

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583

2011

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND 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: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND The cardiofaciocutaneous syndrome. 16825433

2006

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
1.000 Biomarker GENOMICS_ENGLAND