Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 0.700 CausalMutation CLINVAR Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. 17641779

2007

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506

2005

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 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

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 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

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs121918466
rs121918466
Hypertrophic cardiomyopathy without obstruction
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001