Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE The CALR mutation occurred at a frequency of 0.0% in PV, whereas in ET, it ranged from 12.6 to 50%, and in PMF, it ranged from 10 to 100%. 31208359 2019
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA). 31248375 2019
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients. 29975001 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 Biomarker disease BEFREE Key differences from the 2011 diagnostic recommendations included: lower threshold values for hemoglobin and hematocrit and bone marrow examination for diagnosis of polycythemia vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, CALR or MPL driver mutations. 29515238 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 Biomarker disease BEFREE Description of recurrent genetic abnormalities in driver genes, including Janus Kinase 2 (JAK2), myeloproliferative leukemia and calreticulin, a better appreciation of the key diagnostic role of bone marrow features, results of large epidemiologic studies and a few but landmark controlled clinical trials produced in the last decade, all resulted in a reappraisal of the approach to polycythemia vera and essential thrombocythemia. 29194068 2018
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 AlteredExpression disease BEFREE As shown by Western blot analysis, erythroblasts generated in vitro from normal sources and JAK2V617F polycythemia vera (PV) patients expressed robust levels of CALR. 28232234 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 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 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 Biomarker disease BEFREE Driver mutations (JAK2V617F, MPLW515L/K or CALR), pentraxin-3 and C-reactive protein in essential thrombocythemia and polycythemia vera. 28228104 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE The use of Interferon-alpha2 (IFN) is rapidly expanding in several countries, based upon favourable safety and efficacy profiles in several single-arm studies during the last 30 years, displaying complete hematological remissions in a large proportion of patients, a reduction in the JAK2V617 F and CALR mutational burden and in a subset of patients with PV with normalisation of the bone marrow after long-term treatment - even being sustained for several years after discontinuation of IFN. 28402197 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis frequently harbor JAK2, MPL, and CALR somatic mutations. 28406068 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE In December 2013, two research groups independently reported mutations in the gene CALR found specifically in ET (67-71%) and PMF (56-88%) but not in PV. 27039813 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE The frequency of CALR mutations was 20.3% in 123 MPN patients; 31.1% in ET (n=74), 25% in primary myelofibrosis (n=4) and 2.2% in polycythemia vera (n=45). 27486987 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Polycythemia vera is mainly related to JAK2 mutations, whereas a wider mutational spectrum is detected in essential thrombocythemia (ET) with mutations in JAK2, the thrombopoietin (TPO) receptor (MPL), and the calreticulin (CALR) genes. 26450985 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 Biomarker disease BEFREE Five patients had long-standing ET (three were calreticulin (CALR)-positive, one janus kinase 2 (JAK2)-positive, and one JAK2-negative and CALR-negative), and one had long-standing JAK2-positive PV prior to starting Peg-IFN. 26961933 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 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 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Compared with PV and ET, the JAK2V617F and CALR mutated allele burden was significantly higher in PPV-MF and/or PET-MF, indicating a role for accumulation of mutated alleles in the process of transformation to MF. 27037840 2016
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE As such, CALR first, followed by MPL if CALR is absent, mutation screening is appropriate in the diagnostic work-up of JAK2-unmutated ET but does not replace the need for BM morphologic examination in (1) confirming the diagnosis in triple-negative ET and (2) distinguishing ET from other myeloproliferative neoplasms that share the same mutations, including masked PV and early/prefibrotic myelofibrosis. 26355403 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE We detected CALR mutations in blood and bone marrow samples from 152 subjects with ET and with PMF but not in samples from normal or persons with PV, CML, or HES. 25860380 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 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 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation. 25116092 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). 25849990 2015
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE In summary, although unknown mutations leading to PV cannot be ruled out, our results suggest that CALR mutations can be associated with JAK2-negative PV. 25305205 2014
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). 25189723 2014
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE In a cohort of 127 patients, CALR indels were identified in 6 of 55 (11%) subjects with ET and in 6 of 20 (30%) with PMF, whereas 52 cases of polycythemia vera had nonmutated CALR. 24553179 2014
Entrez Id: 811
Gene Symbol: CALR
CALR
0.100 GeneticVariation disease BEFREE CALR mutations had a favorable impact on thrombosis-free survival (TFS) for ET patients, whereas the respective TFS outcomes were similarly poorer in JAK2-mutated ET and PV patients. 25015052 2014