rs121918466, PTPN11

N. diseases: 14
Disease: Congenital stenosis of pulmonary valve ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. 16166557 2005
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. 17641779 2007
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005