Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenotypic presentation that mimicked some aspects of NS and that this was dependent upon activation of the ERK1/2 pathway. 19706403

2009
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008
dbSNP: rs121918466
rs121918466
PTPN11
0.730 GeneticVariation BEFREE We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD. 17641779

2007
dbSNP: rs121918466
rs121918466
PTPN11
0.730 GeneticVariation BEFREE Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD. 17641779

2007
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2. 16166557

2005
dbSNP: rs121918466
rs121918466
PTPN11
0.730 GeneticVariation BEFREE 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
PTPN11
G 0.730 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 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
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711

2003
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein. 30304563

2019
dbSNP: rs121918461
rs121918461
PTPN11
0.720 GeneticVariation BEFREE Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS. 29125030

2018
dbSNP: rs397507539
rs397507539
PTPN11
0.720 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462

2018
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome. 29214238

2017
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor. 25383899

2014
dbSNP: rs397507539
rs397507539
PTPN11
0.720 GeneticVariation BEFREE Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively. 24891296

2014
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR MAPK activation in mature cataract associated with Noonan syndrome. 24219368

2013
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Clinical and molecular analysis of RASopathies in a group of Turkish patients. 22420426

2013