Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression. 31710700

2020

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Expression of mutant CALR induces thrombocytosis in animal models, producing the phenotype of ET. 31848992

2020

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Mice with Calr mutations homologous to human CALR mutations only exhibit mild thrombocytosis. 30926777

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Lethally irradiated mice that were engrafted with bone marrow transduced with the different CALR mutations developed thrombocytosis, but to a much lesser extent with ins5 and the type 2-like CALR mutation. 30846848

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE In this brief review of ET, we introduce a rare CALR mutation through a case presentation of a 58-year-old man with diffuse pulmonary emboli in the setting of thrombocytosis. 29411299

2018

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 Biomarker BEFREE Homozygous CALR<sup>del/del</sup> mice developed extreme thrombocytosis accompanied by features of MF, including leukocytosis, reduced hematocrit, splenomegaly, and increased bone marrow reticulin. 29282219

2018

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE The recently characterized protein-protein interaction of CALR mutants and MPL receptor has advanced our knowledge on the functional role of CALR mutants in thrombocythemia but it has also uncovered limitations of the current established research models. 28589084

2017

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 Biomarker BEFREE The mutation rate of JAK2V617F and CALR in ET group was significantly higher than that in the secondary thrombocythemia group (p<0.05). 28450924

2017

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Time free from cytoreduction was significantly shorter in CALR-mutated patients with essential thrombocythemia than in JAK2(V617F)-mutated ones (median time 5 years and 9.8 years, respectively; P=0.0002) and cytoreduction was usually necessary to control extreme thrombocytosis. 27175028

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE We investigated the JAK2 V617F, CALR and STAT5 activation status in patients with CML and thrombocytosis (CML-T) that mimicked ET, trying to identify a common mechanism for thrombocytosis in MPN. 26754830

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 AlteredExpression BEFREE The expression of CALR-del52 and CALR-ins5 mutants caused an increase in the hematopoietic stem/progenitor cells followed by thrombocytosis without affecting normal angiogenesis. 27716741

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE The identification of somatic calreticulin (CALR) mutations can be used to confirm the diagnosis of a myeloproliferative disorder in Philadelphia chromosome-negative, JAK2 and MPL wild type patients with thrombocytosis. 27114372

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Screening PCR Versus Sanger Sequencing: Detection of CALR Mutations in Patients With Thrombocytosis. 27139600

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance. 24371211

2014