Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. 24039098

2014

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011

dbSNP: rs397507509
rs397507509
0.710 GeneticVariation BEFREE The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome. 18328949

2008

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome. 18328949

2008

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 18562489

2008

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase. 17053061

2007

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Noonan syndrome: relationships between genotype, growth, and growth factors. 16263833

2006

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Acute lymphoblastic leukaemia in Noonan syndrome. 16643459

2006

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475

2005

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004

dbSNP: rs397507509
rs397507509
C 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002