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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Downgrading of arts-centered education in state schools. 1760348

1992
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. 19933846

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Protein kinase and protein phosphatase expression in the central nervous system of G93A mSOD over-expressing mice. 12675918

2003
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3. 17603486

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR The aim of this study was to assess the correlation between phenotype and genotype by molecular analysis of the PTPN11, SOS1, KRAS, and RAF1 genes in 59 Korean patients with NS. 19020799

2008
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general. 17603483

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR RASSF1A inactivation unleashes a tumor suppressor/oncogene cascade with context-dependent consequences on cell cycle progression. 24732797

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Common variants in WFS1 confer risk of type 2 diabetes. 17603484

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes. 20052757

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Redox regulation of peptide receptivity of major histocompatibility complex class I molecules by ERp57 and tapasin. 17603488

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 26266034

2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity. 11933072

2002
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 29084544

2017
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer. 17603487

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR 14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity. 12077328

2002
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 23885229

2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes. 20052757

2010
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR External ear anomalies and hearing impairment in Noonan Syndrome. 25862627

2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Our results suggest that an increased heterodimerization ability is the common pathogenic mechanism for NS-associated RAF1 mutations. 22826437

2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993

2012