rs121918466, PTPN11

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
0.700 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 CausalMutation CLINVAR
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.700 CausalMutation CLINVAR
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2002
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. 12739139 2003
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002