Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507547
rs397507547
PTPN11
G 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 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 0.800 CausalMutation CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561

2017
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 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 0.800 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368

2013
dbSNP: rs397507549
rs397507549
PTPN11
G 0.800 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.800 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.800 CausalMutation CLINVAR LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 21803945

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 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 0.800 CausalMutation CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418

2009
dbSNP: rs397507549
rs397507549
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 19582499

2009
dbSNP: rs121918462
rs121918462
PTPN11
T 0.800 CausalMutation CLINVAR Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. 19063751

2008
dbSNP: rs121918462
rs121918462
PTPN11
T 0.800 CausalMutation CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045

2008
dbSNP: rs121918462
rs121918462
PTPN11
T 0.800 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008
dbSNP: rs121918462
rs121918462
PTPN11
T 0.800 CausalMutation CLINVAR Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 18454468

2008
dbSNP: rs28933386
rs28933386
PTPN11
G 0.800 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957

2008
dbSNP: rs121918462
rs121918462
PTPN11
T 0.800 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163

2007