Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 Biomarker GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561

2017

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 Biomarker GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583

2011

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 GeneticVariation CLINVAR 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: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 GeneticVariation UNIPROT 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: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 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: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 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: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 Biomarker CTD_human

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.700 CausalMutation CLINVAR