| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
||||
|
0.700 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
||||
|
0.700 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
||||
|
0.700 | GeneticVariation | UNIPROT | Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. | 15772091 | 2005 |
||||
|
0.010 | GeneticVariation | BEFREE | By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. | 17673550 | 2007 |
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|
0.010 | GeneticVariation | BEFREE | In two SKs, the A393E mutation was found, which has not been described in acanthotic and hyperkeratotic SKs so far. | 16778799 | 2006 |