rs137852813, SOS1

N. diseases: 11
Disease: Blepharoptosis ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466 2011
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR