Gene: PTPN11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739

2018
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241

2017
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561

2017
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368

2013
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397516807
rs397516807
PTPN11
T 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
dbSNP: rs397516807
rs397516807
PTPN11
T 0.700 CausalMutation CLINVAR Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 20577567

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418

2009
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957

2008
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795

2006
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085

2004
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918453
rs121918453
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918456
rs121918456
PTPN11
G 0.700 CausalMutation CLINVAR