Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007