CALR, calreticulin, 811

N. diseases: 487; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Patients with CALR-mutated ET appear to be more likely to develop myelofibrosis compared with patients with wt CALRUpon completion of this activity you will be able to: describe morphologic features that are associated with CALR-mutated myeloproliferative neoplasms.examine cases of essential thrombocythemia and primary myelofibrosis and predict which cases are more likely to be CALR-mutated based on histopathologic features.initiate CALR mutation testing for cases likely to have mutations. 27124925 2016
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 AlteredExpression disease BEFREE "Driver" mutations in JAK2, MPL and indels in CALR underlie the vast majority of cases of PMF and post-ET MF; the remainder (≈ 10%) lack identifiable driver mutations, but other clonal markers are usually detectable. 31630335 2020
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 GeneticVariation disease BEFREE Effect of CALR and JAK2 mutations on the clinical and hematological phenotypes of the disease in patients with myelofibrosis - long-term experience from a single center. 29534592 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 SomaticCausalMutation disease ORPHANET The niche construction perspective: a critical appraisal. 24325256 2014
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 SomaticCausalMutation disease ORPHANET Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 24325359 2013
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 Biomarker disease GENOMICS_ENGLAND Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 24325359 2013