×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
Biomarker
disease
HPO
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
Biomarker
disease
MGD
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
Biomarker
disease
BEFREE
Among children with JMML (CMML/JCML ) not receiving a BMT, time to death was shortest in those best described as JCML (absence of constitutional and karyotypic derangement, thrombocytopenia and elevated Hb F).
10706766
2000
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
GeneticVariation
disease
LHGDN
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
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
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
1.000
GeneticVariation
disease
UNIPROT
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
1.000
CausalMutation
disease
CLINVAR
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
BEFREE
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
1.000
CausalMutation
disease
CLINVAR
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
12739139
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
GeneticVariation
disease
BEFREE
These characteristics identify a subset of pediatric AML with PTPN11 mutations that share clinical and biologic features with JMML .
15385933
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
GeneticVariation
disease
BEFREE
We recently demonstrated that somatic PTPN11 mutations are the most frequent lesion in juvenile myelomonocytic leukemia and are observed in a smaller percentage of children with other myeloid malignancies.
14982869
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
GeneticVariation
disease
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
GeneticVariation
disease
BEFREE
RAS, NF1, and PTPN11 mutations are largely mutually exclusive in JMML , which suggests that mutant SHP-2 proteins deregulate myeloid growth through Ras.
14644997
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
1.000
CausalMutation
disease
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
1.000
CausalMutation
disease
CLINVAR
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
15273746
2004