Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. 28074573

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. 26817465

2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. 25712082

2015
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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. 25804457

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Distinct and overlapping functions of ptpn11 genes in Zebrafish development. 24736444

2014
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: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN K-Ras(V14I)-mutant mice displayed multiple NS-associated developmental defects such as growth delay, craniofacial dysmorphia, cardiac defects, and hematologic abnormalities including a severe form of MPD that resembles human JMML. 25359213

2014
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Mutations in PTPN11 and SOS1 genes were found in patients with diagnosis of NS and BRAF gene mutations in patients with CFC syndrome. 25337068

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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178

2013
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation in the KRAS gene. 24382853

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN The RASopathies. 23875798

2013
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: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Our findings implicate that N116S change in KRAS is a hyperactive mutation which is a causative agent of NS through maldevelopment of the heart. 22302539

2012
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: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Recently, we and others identified SOS1 as a major gene underlying NS. 21387466

2011
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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. 20718194

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN To understand the role of SOS1 in the pathogenesis of NS, we generated mice with the NS-associated Sos1E846K gain-of-function mutation. 21041952

2010