Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Recent advances in RASopathies. 26446362

2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553

2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553

2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Recent advances in RASopathies. 26446362

2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437

2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993

2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437

2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993

2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094

2009
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094

2009
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007