Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
0.700 | GeneticVariation | UNIPROT | |||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
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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 | Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. | 19396835 | 2009 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 |
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|
|
0.800 | GeneticVariation | UNIPROT | Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. | 17468812 | 2007 |
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|
|
0.800 | GeneticVariation | UNIPROT | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. | 16773572 | 2006 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Noonan syndrome: clinical features, diagnosis, and management guidelines. | 20876176 | 2010 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. | 19396835 | 2009 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. | 17468812 | 2007 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. | 16773572 | 2006 |
||||||||
|
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | K-RasV14I recapitulates Noonan syndrome in mice. | 25359213 | 2014 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. | 23885229 | 2013 |
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|
|
T | 0.800 | CausalMutation | CLINVAR | KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. | 21686179 | 2011 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 |