| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. | 28074573 | 2017 | |||||||
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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 | |||||||
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0.800 | GeneticVariation | UNIPROT | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. | 24891296 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. | 15889278 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. | 15948193 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. | 15384080 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. | 12529711 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 | |||||||
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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 | |||||||
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0.800 | GeneticVariation | UNIPROT | Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. | 12739139 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. | 12161469 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Clinical and Molecular Findings of Tunisian Patients with RASopathies. | 25337068 | 2014 | ||||||
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0.700 | GeneticVariation | GWASDB | Seventy-five genetic loci influencing the human red blood cell. | 23222517 | 2012 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. | 19449407 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. | 19449407 | 2009 |