rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
25914815
2015
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
24150203
2014
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.
23624134
2013
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
23832011
2013
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605
2012
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
RASopathies: Clinical Diagnosis in the First Year of Life.
22190897
2011
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
20030748
2010
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
Genotype differences in cognitive functioning in Noonan syndrome.
19077116
2009
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature.
19125092
2009
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
Clinical and molecular characterization of 40 patients with Noonan syndrome.
18678287
2009
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Noonan syndrome: relationships between genotype, growth, and growth factors.
16263833
2006
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
16804314
2006
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.710
GeneticVariation
BEFREE
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
16804314
2006
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.
15956085
2005
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.710
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
rs397507505
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
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