Disease: Coarse features ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424492
Disease: Coarse features
Coarse features 		0.100 CausalMutation phenotype CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466 2011
CUI: C0424492
Disease: Coarse features
Coarse features 		0.100 CausalMutation phenotype CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
CUI: C0424492
Disease: Coarse features
Coarse features 		0.100 CausalMutation phenotype CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
CUI: C0424492
Disease: Coarse features
Coarse features 		0.100 CausalMutation phenotype CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
CUI: C0424492
Disease: Coarse features
Coarse features 		0.100 CausalMutation phenotype CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007