Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2. 16166557

2005
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711

2003
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor. 25383899

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR MAPK activation in mature cataract associated with Noonan syndrome. 24219368

2013
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Clinical and molecular analysis of RASopathies in a group of Turkish patients. 22420426

2013
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529

2012
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2. 22371576

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 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: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. 21590266

2012
dbSNP: rs397507539
rs397507539
PTPN11
A 0.720 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: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase. 21365683

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 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: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010