ARHGAP26
Juvenile Myelomonocytic Leukemia
0.600
CausalMutation
CLINVAR
×
Entrez Id: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
21901340 2012
×
Entrez Id: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.
20955399 2010
×
Entrez Id: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy.
20694012 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: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
19571318 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: 4893
Gene Symbol: NRAS
NRAS
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Hyperactive Ras in developmental disorders and cancer.
17384584 2007
×
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
16518851 2006
×
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
Juvenile Myelomonocytic Leukemia
0.800
CausalMutation
CLINVAR
Juvenile myelomonocytic leukemia and Noonan syndrome.
10598665 2000
×
Entrez Id: 867
Gene Symbol: CBL
CBL
Juvenile Myelomonocytic Leukemia
0.800
GeneticVariation
CLINVAR
×
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
CausalMutation
CLINVAR
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.
25383899 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
24628801 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
24718990 2014
×
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: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
23756559 2013
×
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
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
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
22315187 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
[Clinical and molecular study of the Noonan syndrome].
23513489 2012
×
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
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: 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