×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Juvenile Myelomonocytic Leukemia
1.000
GeneticVariation
CLINVAR
×
Entrez Id: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
GeneticVariation
CLINVAR
ARHGAP26
Juvenile Myelomonocytic Leukemia
0.600
CausalMutation
CLINVAR
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Juvenile myelomonocytic leukemia (JMML ) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11 , NF1, NRAS, KRAS and CBL, in the majority of cases.23832011 2013
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
20651068 2010
×
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
A restricted spectrum of NRAS mutations causes Noonan syndrome.
19966803 2010
×
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
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
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260 2011
×
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
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
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
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
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218 2003
×
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
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
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
×
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: 4893
Gene Symbol: NRAS
NRAS
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
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
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529 2012
×
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
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
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