Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 | Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. | 17468812 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 |
||||
|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
||||
|
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 |
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|
T | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. | 16987887 | 2006 |
|||
|
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 |
||||
|
0.800 | GeneticVariation | UNIPROT | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
|||
|
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 |
||||
|
0.800 | GeneticVariation | UNIPROT | Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. | 16773572 | 2006 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |