|
| 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 |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
SHP-2 and myeloid malignancies.
|
14676626 |
2004 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
|
17546245 |
2007 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
The role of Shp2 (PTPN11) in cancer.
|
17227708 |
2007 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
|
| 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 |
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 |
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 |
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
|
16399795 |
2006 |
|
| 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 |
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
|
17339163 |
2007 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
|
| 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 |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
|
15948193 |
2005 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.
|
15385933 |
2004 |
|
| 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 |
Genetics and variation in phenotype in Noonan syndrome.
|
15539800 |
2004 |
|
| 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 |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
| 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 |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
|
| 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 |
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
|
25912702 |
2015 |