×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
Biomarker
HPO
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759 2001
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261 2002
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469 2002
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
12325025 2002
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
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
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
12717436 2003
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
12717436 2003
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
12739139 2003
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218 2003
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
14982869 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
15240615 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
15273746 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.
15385933 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
15604238 2004
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.
15644411 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
15723289 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
15834506 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
15842656 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML , NS/MPD, and NS.
15928039 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML , NS/MPD, and NS.
15928039 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
15987685 2005