×
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: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.
20954246 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
16115145 2005
×
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
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
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
28628100 2017
×
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
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
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
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
A suggested role for mitochondria in Noonan syndrome.
19835954 2010
×
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
×
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
CausalMutation
CLINVAR
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
19008228 2009
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.
21169357 2011
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
22371576 2012
×
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
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
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
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
15987685 2005
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
20112233 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
The genetic landscape of high-risk neuroblastoma.
23334666 2013
×
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: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
19047918 2009