| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. | 21407260 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Genotype differences in cognitive functioning in Noonan syndrome. | 19077116 | 2009 |
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|
G | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. | 15985475 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. | 14974085 | 2004 |
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|
G | 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 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 |