Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE We screened 136 patients with myelofibrosis and a median age of 58 years who underwent allogeneic stem cell transplantation (AHSCT) for molecular residual disease for JAKV617F (n=101), thrombopoietin receptor gene (MPL) (n=4) or calreticulin (CALR) (n=31) mutation in peripheral blood on day +100 and +180 after AHSCT. 28714945 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE The myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) display distinct clinical and pathologic features but are characterized by mutations in JAK2, MPL, and CALR leading to activation of the JAK-STAT pathway. 28948454 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 AlteredExpression disease BEFREE The thrombopoietin/MPL axis is activated in the Gata1<sup>low</sup> mouse model of myelofibrosis and is associated with a defective RPS14 signature. 28622305 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE The role of MPL in the prediction of thrombosis is of difficult demonstration due to the low frequency in ET and PMF. 27067982 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE We retrospectively examined the clinical and biological characteristics of 13 patients with concomitant CLL and MPN--eight primary myelofibrosis (PMF), three essential thrombocytosis (ET), and two polycythemia vera (PV)--who presented to our institution between 1998 and 2014, and tested all patients for MPN-specific aberrations, such as JAK2, MPL and CALR mutations. 26402369 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE A 65-year-old woman with MPL-mutated essential thrombocythemia and progression to myelofibrosis was noted upon routine pretransplant testing to have mixed field reactivity with anti-D and an historic discrepancy in RhD type. 28653329 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. 29047144 2017
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2017
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). 27811851 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE The objective of the current study was to examine the impact of CALR mutation variant stratified driver mutational status on overall (OS), myelofibrosis-free (MFFS), thrombosis-free, and leukemia-free survival (LFS) in ET; 495 patients (median age 58 years; 61% females) with ET were fully annotated for the their driver mutational status: 321 (65%) harbored JAK2, 109 (22%) CALR, and 12 (2%) MPL mutations and 11% were triple-negative. 26890983 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF. 26182311 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Somatic mutations in Calreticulin (CALR) have been recently discovered in JAK2/MPL unmutated patients with primary myelofibrosis (PMF) or essential thrombocythemia. 25959795 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE A number of phenotypic driver (JAK2, CALR, MPL) and additional subclonal mutations have been described in PMF, pointing to a complex genomic landscape. 26547506 2016
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. 26854587 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN). 25068507 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Calreticulin (CALR) mutations were recently identified in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) devoid of JAK2 and MPL mutations. 25015052 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. 25116092 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE Recently, mutations in calreticulin (CALR) were described in adult patients with JAK2/MPL-unmutated PMF. 25176567 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. 25746303 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 GeneticVariation disease BEFREE In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myeloproliferative leukemia virus oncogene gene mutation-positive and 30 triple-negative (11%) cases were identified, while in primary myelofibrosis 56 (57%) Janus kinase 2 V617F, 25 (25%) calreticulin, 7 (7%) myeloproliferative leukemia virus oncogene gene mutation-positive and 11 (11%) triple-negative cases were identified. 24895336 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. 24986690 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker disease BEFREE Somatic CALR exon 9 mutations have recently been identified in patients with JAK2/MPL-unmutated myeloproliferative neoplasm, and have become an important clonal marker for the diagnosis of essential thrombocythemia (ET) and primary myelofibrosis. 25447704 2015
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2015
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015