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 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
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 Biomarker disease BEFREE The in vitro treatment of splenic and peripheral blood MF CD34(+) cells with the JAK1/2/3 inhibitor, AZD1480, reduced the absolute number of CD34(+), CD34(+)CD90(+), and CD34(+)CXCR4(+) cells as well as assayable hematopoietic progenitor cells (HPCs) irrespective of the JAK2 and calreticulin mutational status. 25193869 2014
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 GeneticVariation disease BEFREE Calreticulin gene mutations have recently been identified in JAK2 mutation-negative patients with MF. 24888274 2014
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 Biomarker disease GENOMICS_ENGLAND Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 24325359 2013
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.600 SomaticCausalMutation disease ORPHANET Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 24325359 2013