Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN The RASopathies. 23875798

2013
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: 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
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome. 18651097

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN The phenotype associated with SOS1 defects lies within the Noonan syndrome spectrum but is distinctive, with a high prevalence of ectodermal abnormalities but generally normal development and linear growth. 17143282

2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker CLINGEN Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation. 17143285

2007