Disease: Thrombocytosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.030 GeneticVariation BEFREE Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis. 30183354 2018
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.030 GeneticVariation BEFREE In a retroviral mouse model performed in Mpl<sup>-/-</sup> mice, MPL P106L could induce a thrombocytosis phenotype with high circulating THPO levels. 28034873 2016
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.030 GeneticVariation BEFREE We assume that p.Pro106Leu is a frequent MPL mutation in the Arab population, leading to severe thrombocytosis in homozygotes and occasionally to mild thrombocytosis in heterozygotes. 19036112 2009
dbSNP: rs17292650
rs17292650
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.020 GeneticVariation BEFREE The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. 23511495 2013
dbSNP: rs17292650
rs17292650
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.020 GeneticVariation BEFREE K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis. 15269348 2004
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis 		0.010 GeneticVariation BEFREE The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required. 26919114 2016