Source: INFERRED

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 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. 23026937

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. 22495831

2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 20523244

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 19376813

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation 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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR 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 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. 18953432

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004