×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
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
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
BEFREE
We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1 ) from 12 families and their relevant family members for mutations in PTPN11 /SHP2 using direct DNA sequencing.
12325025
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
12739139
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
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
GeneticVariation
UNIPROT
We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1 ) from 12 families and their relevant family members for mutations in PTPN11 /SHP2 using direct DNA sequencing.
12325025
2002
×
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
GeneticVariation
UNIPROT
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
15384080
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
19020799
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
12634870
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
12529711
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
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
GeneticVariation
UNIPROT
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
28074573
2017
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
GeneticVariation
UNIPROT
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Noonan Syndrome 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Noonan Syndrome 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
6655
Gene Symbol:
SOS2
SOS2
Noonan Syndrome 1
0.100
GeneticVariation
CLINVAR
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
26173643
2015
×
Entrez Id:
7124
Gene Symbol:
TNF
TNF
Noonan Syndrome 1
0.010
GeneticVariation
BEFREE
Only weak or nonspecific binding of NS1-nuc to the segments of the TNFα and IL-6 promoters was found.
27809499
2016
×
Entrez Id:
3569
Gene Symbol:
IL6
IL6
Noonan Syndrome 1
0.010
GeneticVariation
BEFREE
Only weak or nonspecific binding of NS1-nuc to the segments of the TNFα and IL-6 promoters was found.
27809499
2016
×
Entrez Id:
3455
Gene Symbol:
IFNAR2
IFNAR2
Noonan Syndrome 1
0.010
GeneticVariation
BEFREE
Likewise, replication of G45R /NS1 virus was increased in comparison to wild type virus in both wild type and type I interferon receptor null Let1 cells.
27405392
2016
×
Entrez Id:
5920
Gene Symbol:
PLAAT4
PLAAT4
Noonan Syndrome 1
0.010
GeneticVariation
BEFREE
We also observed that wild-type NS1 is capable of binding directly to the tandem RIG-I CARDs while the R21Q mutation in NS1 significantly inhibits this interaction.
31843969
2020
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.910
Biomarker
GENOMICS_ENGLAND
The RASopathies.
23875798
2013