Gene: SOS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). 31219622 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE Patients with NS attending our Center from January 2013 to June 2018 were eligible for inclusion if they carried SOS1 variants and presented with-or developed-CMP. 31368652 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR Psychopathological features in Noonan syndrome. 29037749 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. 30039904 2018
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 Biomarker disease BEFREE This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. 28009100 2017
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE We report on a novel pathogenic mutation in the SOS1 gene and a large clinical spectrum in a NS family with ten genetically confirmed affected individuals. 28884940 2017
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. 28378436 2017
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 26686981 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE This analysis identified activating SOS1 mutations associated with Noonan syndrome as significantly altered in melanoma and the first kinase-activating mutations in ACVR1 associated with adult tumors. 27304678 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. 26918529 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. 26686981 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR RASopathy Gene Mutations in Melanoma. 27236105 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 Biomarker disease BEFREE Growth retardation was significantly less severe and less frequent at 2 years in patients with NSML-PTPN11 and SOS1 than in patients with NS-PTPN11 (P < 0.001 and P = 0.002 respectively). 26903553 2016
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 Biomarker disease 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 		1.000 CausalMutation disease CLINVAR Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. 26214590 2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 AlteredExpression disease BEFREE 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 		1.000 GeneticVariation disease BEFREE Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. 26173643 2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease CLINVAR A quantitative liposome microarray to systematically characterize protein-lipid interactions. 24270602 2014
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease CLINVAR CIIA negatively regulates the Ras-Erk1/2 signaling pathway through inhibiting the Ras-specific GEF activity of SOS1. 24522193 2014
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease BEFREE Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). 24522193 2014