Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. | 25538044 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | MPL W515L mutation in pediatric essential thrombocythemia. | 23441089 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. | 19483125 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. | 14764528 | 2004 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. | 25538044 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | MPL W515L mutation in pediatric essential thrombocythemia. | 23441089 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. | 19483125 | 2009 |
||||
|
0.700 | GeneticVariation | UNIPROT | Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. | 14764528 | 2004 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT |