rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
24039098
2014
rs397507509
×
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
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.710
GeneticVariation
BEFREE
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome .
18328949
2008
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome .
18328949
2008
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.
18562489
2008
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.
17053061
2007
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
17546245
2007
rs397507509
×
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
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
17020470
2006
rs397507509
×
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
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Acute lymphoblastic leukaemia in Noonan syndrome.
16643459
2006
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
15985475
2005
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
15928039
2005
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
14644997
2004
rs397507509
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
C
0.710
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002