rs1214031315
PTPN11;RPL6
Adult Pilocytic Astrocytoma
0.010
GeneticVariation
BEFREE
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma .
17712732
2007
rs1214031315
PTPN11;RPL6
Childhood Pilocytic Astrocytoma
0.010
GeneticVariation
BEFREE
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma .
17712732
2007
rs1214031315
PTPN11;RPL6
Pilocytic Astrocytoma
0.010
GeneticVariation
BEFREE
We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma .
17712732
2007
rs2233861
×
Entrez Id:
6128
Gene Symbol:
RPL6
RPL6
Corpuscular Hemoglobin Concentration Mean
0.700
GeneticVariation
GWASDB
Seventy-five genetic loci influencing the human red blood cell.
23222517
2012
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
T
0.800
CausalMutation
CLINVAR
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
12529711
2003
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
28074573
2017
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
12739139
2003
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
15384080
2004
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
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
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
15948193
2005
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Noonan syndrome: clinical features, diagnosis, and management guidelines.
20876176
2010
rs267606990
PTPN11;RPL6
Noonan Syndrome 1
0.800
GeneticVariation
UNIPROT
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218
2003
rs267606990
PTPN11;RPL6
Noonan Syndrome
T
0.700
CausalMutation
CLINVAR
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
12960218
2003
rs267606990
PTPN11;RPL6
Noonan Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical and Molecular Findings of Tunisian Patients with RASopathies.
25337068
2014
rs267606990
PTPN11;RPL6
Noonan Syndrome
T
0.700
CausalMutation
CLINVAR
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
19449407
2009