rs397507509
|
|
|
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
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Noonan syndrome: relationships between genotype, growth, and growth factors.
|
16263833 |
2006 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.
|
17053061 |
2007 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
|
15985475 |
2005 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
|
17546245 |
2007 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.
|
24039098 |
2014 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs397507509
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Acute lymphoblastic leukaemia in Noonan syndrome.
|
16643459 |
2006 |
rs397507509
|
|
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
|
|
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 |