rs121913614, MPL

N. diseases: 7
Disease: Primary Myelofibrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.730 GeneticVariation BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803 2020
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.730 GeneticVariation CLINVAR Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 20151976 2010
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.730 GeneticVariation BEFREE To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO). 20113333 2010
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.730 GeneticVariation BEFREE Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. 19713221 2010
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.730 GeneticVariation CLINVAR New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 18528423 2008