Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666

2013
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K. 21555152

2011
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor. 15644411

2005
dbSNP: rs397507510
rs397507510
PTPN11
T 0.810 CausalMutation CLINVAR Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. 18925961

2008
dbSNP: rs121918453
rs121918453
PTPN11
A 0.800 GeneticVariation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918453
rs121918453
PTPN11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918453
rs121918453
PTPN11
A 0.800 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918453
rs121918453
PTPN11
A 0.800 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918453
rs121918453
PTPN11
A 0.800 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918453
rs121918453
PTPN11
A 0.800 GeneticVariation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009
dbSNP: rs121918454
rs121918454
PTPN11
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. 16533526

2006
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. 16461457

2006
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. 18378677

2008
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 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
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase. 21365683

2011