Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 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
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 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
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs121918468
rs121918468
PTPN11
A 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Prenatal features of Noonan syndrome: prevalence and prognostic value. 21744363

2011
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964

2011
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813

2011
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328

2010
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 20186801

2010
dbSNP: rs397507510
rs397507510
PTPN11
C 0.700 CausalMutation CLINVAR Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 20112233

2010
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR [Mutation analysis of PTPN11 gene in Noonan syndrome]. 20931536

2010
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 20186801

2010
dbSNP: rs121918453
rs121918453
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871

2009
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis. 19179468

2009