×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
16733669
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
12529711
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
20651068
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.
20718194
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
24225993
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.
17875892
2007
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A novel PTPN11 mutation in LEOPARD syndrome.
14961557
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.
16498234
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
19120036
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A suggested role for mitochondria in Noonan syndrome.
19835954
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
15604238
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
16631468
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Acute lymphoblastic leukaemia in Noonan syndrome.
16643459
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
16679933
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
16892325
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
21248739
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
18331608
2008
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Aortic root dilatation is a rare complication of Noonan syndrome.
16830086
2007
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Atrioventricular canal defect in patients with RASopathies.
22781091
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Bone resorption in syndromes of the Ras/MAPK pathway.
21204800
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011