×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
GeneticVariation
disease
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
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
0.910
Biomarker
disease
GENOMICS_ENGLAND
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
30266093
2018
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
28650561
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
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
0.910
CausalMutation
disease
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
0.910
Biomarker
disease
GENOMICS_ENGLAND
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
28650561
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
GeneticVariation
disease
UNIPROT
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
28074573
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
27521173
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.
27659786
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
27238887
2016
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
26785492
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
25912702
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
GeneticVariation
disease
UNIPROT
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
24891296
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
24767283
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
24628801
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
Biomarker
disease
GENOMICS_ENGLAND
The RASopathies.
23875798
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
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
0.910
CausalMutation
disease
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
0.910
CausalMutation
disease
CLINVAR
Lethal presentation of neurofibromatosis and Noonan syndrome.
21567923
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
CLINVAR
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.
21677813
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.910
CausalMutation
disease
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
0.910
CausalMutation
disease
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