×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
28957739
2018
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
28650561
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.
28681392
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
27521173
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.
27659786
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
27238887
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
26785492
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
25912702
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
24767283
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
24628801
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.
23726368
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.
22058153
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Lethal presentation of neurofibromatosis and Noonan syndrome.
21567923
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.
21677813
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
21340158
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
19582499
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
19509418
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.
18454468
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
CausalMutation
CLINVAR
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
17910045
2008