Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517917
rs1057517917
PTPN11
0.020 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529

2012
dbSNP: rs1057517917
rs1057517917
PTPN11
0.020 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 16631468

2006
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. 19737548

2009
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR A novel PTPN11 mutation in LEOPARD syndrome. 14961557

2003
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 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: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085

2004
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918453
rs121918453
PTPN11
T 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: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163

2007
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs121918453
rs121918453
PTPN11
0.710 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Noonan syndrome: relationships between genotype, growth, and growth factors. 16263833

2006
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795

2006
dbSNP: rs121918454
rs121918454
PTPN11
G 0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005