rs121918460, PTPN11

N. diseases: 27
Disease: Heart Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002