Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
G | 0.700 | CausalMutation | CLINVAR | Behavioral profile in RASopathies. | 24458522 | 2014 |
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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 | Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. | 15723289 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Juvenile myelomonocytic leukaemia and Noonan syndrome. | 25097206 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. | 26607044 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. | 15248152 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. | 15956085 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. | 16377799 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. | 17546245 | 2007 |