Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.710 | GeneticVariation | BEFREE | This mutation affected the phosphotyrosine-binding region in the N-terminal src homology 2 domain and was close to a Noonan syndrome mutation (p.T42A). | 15940693 | 2005 |
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G | 0.710 | CausalMutation | CLINVAR | Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. | 18372317 | 2008 |
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G | 0.710 | CausalMutation | CLINVAR | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 |
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G | 0.710 | CausalMutation | CLINVAR | Atrioventricular canal defect in patients with RASopathies. | 22781091 | 2013 |
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G | 0.710 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 |
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G | 0.710 | CausalMutation | CLINVAR | The natural history of Noonan syndrome: a long-term follow-up study. | 16990350 | 2007 |
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G | 0.710 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Noonan syndrome. | 15001945 | 2004 |
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G | 0.710 | CausalMutation | CLINVAR | Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect. | 16892325 | 2006 |
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G | 0.710 | CausalMutation | CLINVAR | Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. | 17661820 | 2007 |