Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
T 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
T 0.700 CausalMutation CLINVAR Clinical and Molecular Findings of Tunisian Patients with RASopathies. 25337068

2014
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
T 0.700 CausalMutation CLINVAR Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 19449407

2009
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
T 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. 17972951

2008
dbSNP: rs121918462
rs121918462
PTPN11
0.740 GeneticVariation BEFREE A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia. 15539800

2004
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations. 20237506

2010
dbSNP: rs121918462
rs121918462
PTPN11
0.740 GeneticVariation BEFREE A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178

2013
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918462
rs121918462
PTPN11
0.740 GeneticVariation BEFREE Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. 26286251

2015
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045

2008
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia. 16115145

2005
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. 15009076

2004
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. 15928039

2005
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008