Disease: Pulmonary Stenosis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation disease 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
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation disease CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.190 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001