Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403

2016

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403

2016

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Unilateral giant cell lesion of the jaw in Noonan syndrome. 25073238

2014

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 25180280

2014

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Unilateral giant cell lesion of the jaw in Noonan syndrome. 25073238

2014

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 25180280

2014

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 23165751

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 22551697

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 23165751

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 22551697

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 19438935

2009

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation CLINVAR SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 19438935

2009