Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507545
rs397507545
PTPN11
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

2013
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 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
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 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
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR [Clinical and molecular study of the Noonan syndrome]. 23513489

2012
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 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
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
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 A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068

2010
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: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. 19008228

2009
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. 19251646

2009
dbSNP: rs121918465
rs121918465
PTPN11
G 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
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
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 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: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. 18758896

2008
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR The natural history of Noonan syndrome: a long-term follow-up study. 16990350

2007
dbSNP: rs121918465
rs121918465
PTPN11
G 0.800 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
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: 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, 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 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006