Source: CLINGEN

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 Biomarker CLINGEN These two cases suggest that abnormal activation of the Ras/MAPK pathway may play a significant role in the development of pulmonary vascular disease in the subset of patients with Noonan syndrome and a specific RAF1 mutation. 25706034

2015

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN 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 Biomarker CLINGEN Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome. 24782337

2014

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy. 23613113

2013

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 22821648

2012

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. 21440552

2011

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN To explore the pathogenesis of such mutations, we generated knockin mice expressing the NS-associated Raf1(L613V) mutation. 21339642

2011

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN 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 Biomarker CLINGEN Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482

2007

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN 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