×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
CausalMutation
disease
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
0.700
CausalMutation
disease
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
0.700
CausalMutation
disease
CLINVAR
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
28650561
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
0.700
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
0.700
CausalMutation
disease
CLINVAR
Lethal presentation of neurofibromatosis and Noonan syndrome.
21567923
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
CausalMutation
disease
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
0.700
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
0.700
CausalMutation
disease
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
0.700
CausalMutation
disease
CLINVAR
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
15987685
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
CausalMutation
disease
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
0.700
CausalMutation
disease
CLINVAR
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
18253957
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
0.700
CausalMutation
disease
CLINVAR
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
16399795
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
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
0.700
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
0.700
Biomarker
disease
CTD_human
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483
2007
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.500
Biomarker
disease
CTD_human
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483
2007
×
Entrez Id:
1969
Gene Symbol:
EPHA2
EPHA2
0.300
Biomarker
disease
CTD_human
Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.
22845314
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease.
11685670
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
15389709
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.700
GeneticVariation
disease
UNIPROT
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002