rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
28074573
2017
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
24891296
2014
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
25173338
2014
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
G
0.800
CausalMutation
CLINVAR
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.
22058153
2012
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
G
0.800
CausalMutation
CLINVAR
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.
21677813
2011
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
G
0.800
CausalMutation
CLINVAR
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.
21803945
2011
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Noonan syndrome: clinical features, diagnosis, and management guidelines.
20876176
2010
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
G
0.800
CausalMutation
CLINVAR
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
19582499
2009
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
19020799
2008
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
15948193
2005
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
G
0.800
CausalMutation
CLINVAR
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
15384080
2004
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
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
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218
2003
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
12529711
2003
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
12739139
2003
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
12325025
2002
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001