rs121918460, PTPN11

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
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 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 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. 15384080 2004
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 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 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 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 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 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
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 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 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 CausalMutation CLINVAR
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003