rs121918459, PTPN11

N. diseases: 47
Disease: Congenital insufficiency of pulmonary valve ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
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
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002