Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations. 24553179 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Calreticulin (CALR) and myeloproliferative leukemia virus oncogene (MPL) mutations are specific to JAK2-unmutated essential thrombocythemia (ET) and primary myelofibrosis (PMF). 25037629 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. 24402162 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE We show that this antibody specifically recognized patients harboring different types of CALR mutation with no staining in healthy controls and JAK2- or MPL-mutated ET and PMF. 24618731 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele. 23994117 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis. 23872309 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE JAK2 and MPL mutations also occur in essential thrombocythemia (ET) and primary myelofibrosis (PMF), but their diagnostic value is limited by suboptimal sensitivity and specificity. 24441292 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE In an extended group of 62 MPL-mutated patients, the granulocyte mutant allele burden ranged from 1% to 95% and was significantly higher in patients with PMF or post-ET myelofibrosis compared with those with ET. 23575445 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Somatic mutations in exon 10 of the MPL (myeloproliferative leukemia virus oncogene) gene, mainly substitutions encoding W515 variants, have recently been described in a minority of patients with ET or PMF. 23065476 2013
Congenital amegakaryocytic thrombocytopenia
1.000 Biomarker disease BEFREE Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. 23908116 2013
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE We describe a CAMT patient with compound heterozygous mutations of the causative MPL gene (one being a previously unreported splice site mutation in intron 11) who developed pancytopenia within the first month of life. 23625800 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients. 21691276 2012
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease 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 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. 21228032 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE As a result, one previously unrecognized MPL mutation (12-bp in-frame insertion) was identified in one patient with ET in addition to an MPLW515K mutation identified in one PMF patient. 21555228 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 21162090 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE In addition to the clinical importance of recognizing this disorder, characterization of mutations identified in patients with CAMT has led to insights into thrombopoietin receptor structure and function. 21337678 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR CAMT is the result of the presence of homozygous or compound heterozygous mutations in the thrombopoietin receptor-encoding gene, MPL. 21489838 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease CLINVAR Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 20151976 2010
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Codon 617 mutation of the JAK2 kinase is found in 40-50% of ET/PMF, whereas the mutation of codon 515 in the JAK2-linked thrombopoietin receptor MPL is found in approximately 20% of JAK2-unmutated cases of ET and PMF. 20113830 2010