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: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.430 GeneticVariation group BEFREE We model calreticulin (CALR) mutations in murine interleukin-3 (mIL-3) dependent pro-B (Ba/F3) cells by delivery of single guide RNAs (sgRNAs) targeting the endogenous Calr locus in the specific region where insertion and/or deletion (indel) CALR mutations occur in patients with myeloproliferative neoplasms (MPN), a type of blood cancer. 29364275 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.430 AlteredExpression group BEFREE CALR mRNA quantification using real-time polymerase chain reaction revealed it to be significantly higher in AML compared with other hematologic malignancies (P < 0.0001). 26640226 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.430 Biomarker group BEFREE With the discoveries of underlying mutations in JAK2, MPL, and, most recently, calreticulin (CALR), that together account for ∼90% of patients with MPNs, these conditions are now among the best characterized of hematological malignancies. 25696868 2014
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.430 Biomarker group HPO
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.430 CausalMutation group CGI