| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. | 23321623 | 2013 |
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|
A | 0.710 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
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|
A | 0.710 | CausalMutation | CLINVAR | Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. | 20112233 | 2010 |
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|
A | 0.710 | CausalMutation | CLINVAR | Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. | 19396835 | 2009 |
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|
A | 0.710 | CausalMutation | CLINVAR | An activating KRAS mutation in imatinib-resistant chronic myeloid leukemia. | 18509354 | 2008 |
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|
A | 0.710 | CausalMutation | CLINVAR | Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | 17704260 | 2007 |
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|
A | 0.710 | CausalMutation | CLINVAR | Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. | 16921267 | 2006 |
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|
0.710 | GeneticVariation | BEFREE | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. | 16474405 | 2006 |
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|
A | 0.710 | CausalMutation | CLINVAR | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. | 16474405 | 2006 |