|
| 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 |
[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 |
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 |
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 |
The role of Shp2 (PTPN11) in cancer.
|
17227708 |
2007 |
|
| 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 |
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 |
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 |
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 |
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 |
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 (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 |
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 |
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 |
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 |
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
|
19063751 |
2008 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
Noonan syndrome.
|
17222357 |
2007 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome 1
|
0.910 |
CausalMutation |
CLINVAR |
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
|
14974085 |
2004 |
|
| 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 |
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 |
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 |
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 |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |