Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR Bone resorption in syndromes of the Ras/MAPK pathway. 21204800

2011

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163

2007

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR The natural history of Noonan syndrome: a long-term follow-up study. 16990350

2007

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002