rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
|
15240615 |
2004 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Surviving Ptpn11(D61G/+) embryos ( approximately 50%) have short stature, craniofacial abnormalities similar to those in Noonan syndrome, and myeloproliferative disease.
|
15273746 |
2004 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
|
16461457 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.
|
18378677 |
2008 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
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 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
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 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
|
19008228 |
2009 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance.
|
19251646 |
2009 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
A suggested role for mitochondria in Noonan syndrome.
|
19835954 |
2010 |