×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.
19773259 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.
19179468 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.
19251646 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
19737548 2009
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
19358724 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
19047918 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Clinical and molecular characterization of 40 patients with Noonan syndrome.
18678287 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
18470943 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
17910045 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
18925961 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
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
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.
18378677 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
19020799 2008
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
17910045 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.
18758896 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
18372317 2008
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.
17177198 2007
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Of 11 children with juvenile myelomonocytic leukemia (JMML ) carrying RAS mutations (8 with NRAS mutations, 3 with KRAS2 mutations), 5 had a profound elevation in either or both the white blood cells and spleen size at diagnosis.
17332249 2007
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.
17361219 2007
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
17339163 2007
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
The natural history of Noonan syndrome: a long-term follow-up study.
16990350 2007
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260 2007
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
16533526 2006
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
17020470 2006
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
16461457 2006