chr19:13049423:> Detail (hg19) (CALR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:13,049,423-13,055,303 |
hg38 | chr19:12,938,609-12,944,489 |
HGVS
Type | Transcript | Protein |
---|---|---|
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
essential thrombocythemia | A |
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Positive | Somatic | 5 | 27069254 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | squamous cell carcinoma | We previously revealed that the calreticulin (CRT) gene is a candidate oncogene ... | BeFree | 25231404 | Detail |
<0.001 | squamous cell carcinoma | Adenosquamous carcinoma of the head and neck: Molecular analysis using CRTC-MAML... | BeFree | 26255977 | Detail |
<0.001 | Cardiomyopathy, Dilated | NA | BeFree | Detail | |
<0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
0.003 | Colonic Neoplasms | NA | LHGDN | Detail | |
0.001 | colorectal carcinoma | To accurately analyze the association between the histological types and molecul... | BeFree | 25110432 | Detail |
0.120 | Colorectal Neoplasms | NA | CTD_human | Detail | |
<0.001 | eclampsia | NA | BeFree | Detail | |
<0.001 | Esophageal Neoplasms | Calreticulin promotes migration and invasion of esophageal cancer cells by upreg... | BeFree | 25231404 | Detail |
<0.001 | Exanthema | NA | BeFree | Detail | |
0.080 | Fibrosis | NA | RGD | Detail | |
<0.001 | Gastrointestinal Neoplasms | Moreover, Honokiol significantly suppressed MNNG-induced gastrointestinal tumor ... | BeFree | 25619450 | Detail |
<0.001 | glioblastoma | NA | BeFree | Detail | |
0.003 | Glioma | NA | BeFree,LHGDN | Detail | |
<0.001 | Graves Disease | NA | BeFree | Detail | |
<0.001 | Heart block | NA | BeFree | Detail | |
<0.001 | Heart failure | NA | BeFree | Detail | |
<0.001 | congestive heart failure | NA | BeFree | Detail | |
<0.001 | heart valve disease | NA | BeFree | Detail | |
<0.001 | hemochromatosis | NA | BeFree | Detail | |
<0.001 | Hepatitis, Chronic | NA | BeFree | Detail | |
<0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
<0.001 | HIV Infections | NA | BeFree | Detail | |
<0.001 | Hypercholesterolemia | NA | BeFree | Detail | |
<0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
<0.001 | arthropathy | NA | BeFree | Detail | |
<0.001 | Speech and language disorder | NA | BeFree | Detail | |
<0.001 | leukemia | NA | BeFree | Detail | |
<0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
0.002 | Leukemia, Myelocytic, Acute | We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in s... | BeFree | 25858548 | Detail |
<0.001 | chronic neutrophilic leukemia | CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia. | BeFree | 25316523 | Detail |
<0.001 | liposarcoma | NA | BeFree | Detail | |
<0.001 | liver cirrhosis | NA | BeFree | Detail | |
<0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
<0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
0.002 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of stomach | Knockdown CRT in gastric cancer cells was found to effectively reduce growth abi... | BeFree | 25619450 | Detail |
0.003 | melanoma | NA | BeFree,LHGDN | Detail | |
0.120 | Melanoma, Experimental | NA | CTD_human | Detail | |
0.005 | Myeloproliferative disease | Calreticulin: a new horizon for the testing and treatment of myeloproliferative ... | BeFree | 24849893 | Detail |
0.005 | Myeloproliferative disease | Distinct clinical characteristics of myeloproliferative neoplasms with calreticu... | BeFree | 24895336 | Detail |
0.005 | Myeloproliferative disease | The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia ... | BeFree | 25023898 | Detail |
0.005 | Myeloproliferative disease | CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytos... | BeFree | 25068507 | Detail |
0.005 | Myeloproliferative disease | Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid maligna... | BeFree | 25139710 | Detail |
0.005 | Myeloproliferative disease | Frequency and molecular characteristics of calreticulin gene (CALR) mutations in... | BeFree | 25323779 | Detail |
0.005 | Myeloproliferative disease | Calreticulin mutations in myeloproliferative neoplasms and new methodology for t... | BeFree | 25349114 | Detail |
0.005 | Myeloproliferative disease | The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative n... | BeFree | 25482455 | Detail |
0.005 | Myeloproliferative disease | Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms. | BeFree | 25499808 | Detail |
0.005 | Myeloproliferative disease | The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia... | BeFree | 25637689 | Detail |
0.005 | Myeloproliferative disease | In this chapter, we detail the genomic alterations that underlie MPNs, with a fo... | BeFree | 25696868 | Detail |
0.005 | Myeloproliferative disease | Mutations in the colony-stimulating factor 3 receptor (CSF3R) and calreticulin (... | BeFree | 25858548 | Detail |
0.005 | Myeloproliferative disease | The prognostic significance of CALR mutations likely differs among the MPN subty... | BeFree | 25873496 | Detail |
0.005 | Myeloproliferative disease | The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative ... | BeFree | 25976465 | Detail |
0.005 | Myeloproliferative disease | The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... | BeFree | 26071474 | Detail |
0.005 | Myeloproliferative disease | ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN ... | BeFree | 26280900 | Detail |
0.005 | Myeloproliferative disease | Fourteen samples from 10 patients with JAK2 and MPL wild-type myeloproliferative... | BeFree | 26486738 | Detail |
0.005 | Myeloproliferative disease | Clinical validation of a multipurpose assay for detection and genotyping of CALR... | BeFree | 26486739 | Detail |
0.120 | Neoplasm Invasiveness | NA | CTD_human | Detail | |
0.005 | Neoplasm Metastasis | Our findings suggest that NRP1 is a critical downstream effector of CRT in promo... | BeFree,LHGDN | 25231404 | Detail |
0.005 | Neoplasm Metastasis | The present study provides insight into the specific biological behavior of CRT ... | BeFree,LHGDN | 25619450 | Detail |
0.005 | Neoplasm Metastasis | Here, we reviewed the biological roles of calreticulin and summarized the potent... | BeFree,LHGDN | 25918716 | Detail |
<0.001 | neuroblastoma | NA | BeFree | Detail | |
<0.001 | onchocerciasis | NA | BeFree | Detail | |
<0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
<0.001 | ovarian carcinoma | NA | BeFree | Detail | |
<0.001 | pituitary adenoma | NA | BeFree | Detail | |
<0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
<0.001 | Pleural effusion disorder | NA | BeFree | Detail | |
<0.001 | Adenomatous Polyposis Coli | NA | BeFree | Detail | |
0.002 | polyps | NA | BeFree | Detail | |
0.003 | pre-eclampsia | NA | LHGDN | Detail | |
<0.001 | Preleukemia | We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in s... | BeFree | 25858548 | Detail |
0.120 | Prostatic Neoplasms | NA | BeFree,CTD_human | Detail | |
<0.001 | Psychotic Disorders | NA | BeFree | Detail | |
<0.001 | Rectal Neoplasms | NA | BeFree | Detail | |
<0.001 | Rheumatism | NA | BeFree | Detail | |
<0.001 | scarlet fever | NA | BeFree | Detail | |
<0.001 | schizoaffective disorder | NA | BeFree | Detail | |
<0.001 | schizophrenia | NA | BeFree | Detail | |
<0.001 | paranoid schizophrenia | NA | BeFree | Detail | |
<0.001 | Shared Paranoid Disorder | NA | BeFree | Detail | |
<0.001 | Dermatologic disorders | NA | BeFree | Detail | |
<0.001 | Stomach Neoplasms | Taken together, our results suggest that the therapeutic inhibition of CRT by Ho... | BeFree | 25619450 | Detail |
<0.001 | gastric ulcer | NA | BeFree | Detail | |
<0.001 | thyroiditis | NA | BeFree | Detail | |
<0.001 | Chagas disease | NA | BeFree | Detail | |
<0.001 | vitiligo | NA | BeFree | Detail | |
<0.001 | intestinal volvulus | NA | BeFree | Detail | |
0.004 | congenital heart block | Only 2% of mothers positive for anti-SSA/Ro (Ro) antibodies have children with c... | BeFree | 25994441 | Detail |
0.120 | Myocardial Ischemia | NA | CTD_human | Detail | |
<0.001 | esophageal carcinoma | Calreticulin promotes migration and invasion of esophageal cancer cells by upreg... | BeFree | 25231404 | Detail |
<0.001 | Secondary malignant neoplasm of lung | NA | BeFree | Detail | |
0.001 | Tumor Progression | NA | BeFree | Detail | |
<0.001 | Liposarcoma, Dedifferentiated | NA | BeFree | Detail | |
<0.001 | Lung Diseases, Interstitial | NA | BeFree | Detail | |
<0.001 | Adenomatous Polyps | NA | BeFree | Detail | |
<0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
<0.001 | Fibrillation | NA | BeFree | Detail | |
<0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
<0.001 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | BeFree | Detail | |
<0.001 | Rheumatic disease of heart valve | NA | BeFree | Detail | |
<0.001 | Systemic amyloidosis | NA | BeFree | Detail | |
<0.001 | Oculocutaneous albinism type 1 | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of stomach stage IV | CRT was significantly down-regulated in highly metastatic gastric cancer cell li... | BeFree | 25619450 | Detail |
<0.001 | Metastatic melanoma | NA | BeFree | Detail | |
0.121 | Squamous cell carcinoma of esophagus | The expression levels of three genes determined by qPCR provide a possible model... | BeFree,CTD_human | 24907633 | Detail |
0.121 | Squamous cell carcinoma of esophagus | Our findings suggest that NRP1 is a critical downstream effector of CRT in promo... | BeFree,CTD_human | 25231404 | Detail |
0.121 | Squamous cell carcinoma of esophagus | Efficient induction of anti-tumor immune response in esophageal squamous cell ca... | BeFree,CTD_human | 25863743 | Detail |
<0.001 | Primary Systemic Amyloidosis | NA | BeFree | Detail | |
<0.001 | cervix carcinoma | NA | BeFree | Detail | |
<0.001 | Tumor necrosis | NA | BeFree | Detail | |
0.003 | Hyperplastic Polyp | To accurately analyze the association between the histological types and molecul... | BeFree | 25110432 | Detail |
<0.001 | Multiple polyps | NA | BeFree | Detail | |
<0.001 | Tubulovillous adenoma | NA | BeFree | Detail | |
<0.001 | Acute panmyelosis with myelofibrosis | CALR mutations were not found in PV or APMF. | BeFree | 25873496 | Detail |
<0.001 | Insulin resistance - type A | NA | BeFree | Detail | |
<0.001 | Streptococcal toxic shock syndrome | Most isolates had scpA, ska, saga, and slo genes, whereas speC, speG, speH, speI... | BeFree | 24210866 | Detail |
<0.001 | Neoplasm of ampulla of Vater | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
<0.001 | Nonorganic psychosis | NA | BeFree | Detail | |
<0.001 | juvenile myelomonocytic leukemia | We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in s... | BeFree | 25858548 | Detail |
0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
<0.001 | Hematologic Neoplasms | With the discoveries of underlying mutations in JAK2, MPL, and, most recently, c... | BeFree | 25696868 | Detail |
<0.001 | Hereditary hemochromatosis | NA | BeFree | Detail | |
<0.001 | lupus erythematosus | NA | BeFree | Detail | |
0.002 | Neonatal Systemic lupus erythematosus | NA | BeFree | Detail | |
<0.001 | Reactive thrombocytosis | CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytos... | BeFree | 25068507 | Detail |
<0.001 | Mood Disorders | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of esophagus | Calreticulin promotes migration and invasion of esophageal cancer cells by upreg... | BeFree | 25231404 | Detail |
<0.001 | Malignant glioma | NA | BeFree | Detail | |
0.001 | Carcinogenesis | In addition to immunogenicity and tumorigenesis, interactions between calreticul... | BeFree | 25918716 | Detail |
0.248 | Thrombocythemia, Essential | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... | BeFree | 25116092 | Detail |
0.001 | prostate carcinoma | NA | BeFree | Detail | |
0.002 | polycythemia vera | Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... | BeFree | 25189723 | Detail |
0.127 | Primary myelofibrosis | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... | BeFree | 24957246 | Detail |
0.248 | Thrombocythemia, Essential | Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... | BeFree | 24957246 | Detail |
0.248 | Thrombocythemia, Essential | Frequency and allele burden of CALR mutations in Chinese with essential thromboc... | BeFree | 25746303 | Detail |
0.248 | Thrombocythemia, Essential | Calreticulin mutations (CALR(MUT)) are found in a significant proportion of pati... | BeFree | 25139350 | Detail |
0.127 | Primary myelofibrosis | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... | BeFree | 25870379 | Detail |
0.122 | myelofibrosis | The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... | BeFree | 25870379 | Detail |
0.127 | Primary myelofibrosis | Frequency and allele burden of CALR mutations in Chinese with essential thromboc... | BeFree | 25746303 | Detail |
<0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
0.248 | Thrombocythemia, Essential | Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... | BeFree | 25189723 | Detail |
0.127 | Primary myelofibrosis | The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617... | BeFree | 25259626 | Detail |
<0.001 | breast carcinoma | NA | BeFree | Detail | |
0.002 | polycythemia vera | In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... | BeFree | 26071474 | Detail |
0.122 | myelofibrosis | This study revealed that CALR mutant essential thrombocythemia is associated wit... | BeFree | 25934766 | Detail |
0.127 | Primary myelofibrosis | This study revealed that CALR mutant essential thrombocythemia is associated wit... | BeFree | 25934766 | Detail |
0.127 | Primary myelofibrosis | Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positi... | BeFree | 25116092 | Detail |
0.002 | polycythemia vera | JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... | BeFree | 25116092 | Detail |
<0.001 | Secondary malignant neoplasm of lymph node | CRT and NRP1 coexpression was significantly associated with lymph node metastasi... | BeFree | 25231404 | Detail |
<0.001 | colon carcinoma | Sessile serrated adenomas/polyps (SSA/Ps) are a putative precursor of colon canc... | BeFree | 25314065 | Detail |
<0.001 | stomach carcinoma | Knockdown CRT in gastric cancer cells was found to effectively reduce growth abi... | BeFree | 25619450 | Detail |
<0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
<0.001 | Central neuroblastoma | NA | BeFree | Detail | |
<0.001 | thrombocytosis | CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytos... | BeFree | 25068507 | Detail |
<0.001 | Spots on skin | NA | BeFree | Detail | |
<0.001 | Mental Retardation, X-Linked | NA | BeFree | Detail | |
0.002 | Traditional Serrated Adenoma | With regard to the histological type, the IGF2 DMR0 methylation levels of SSAs (... | BeFree | 25110432 | Detail |
0.002 | Traditional Serrated Adenoma | Then we summarize the clinicopathological features, classification and molecular... | BeFree | 25263173 | Detail |
0.002 | Traditional Serrated Adenoma | The SSA/Ps are more common and are more likely to be flat than TSAs. | BeFree | 25368744 | Detail |
<0.001 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | NA | BeFree | Detail | |
0.005 | Chronic myeloproliferative disorder | Calreticulin: a new horizon for the testing and treatment of myeloproliferative ... | BeFree | 24849893 | Detail |
0.005 | Chronic myeloproliferative disorder | Distinct clinical characteristics of myeloproliferative neoplasms with calreticu... | BeFree | 24895336 | Detail |
0.005 | Chronic myeloproliferative disorder | The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia ... | BeFree | 25023898 | Detail |
0.005 | Chronic myeloproliferative disorder | CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytos... | BeFree | 25068507 | Detail |
0.005 | Chronic myeloproliferative disorder | Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid maligna... | BeFree | 25139710 | Detail |
0.005 | Chronic myeloproliferative disorder | Frequency and molecular characteristics of calreticulin gene (CALR) mutations in... | BeFree | 25323779 | Detail |
0.005 | Chronic myeloproliferative disorder | Calreticulin mutations in myeloproliferative neoplasms and new methodology for t... | BeFree | 25349114 | Detail |
0.005 | Chronic myeloproliferative disorder | The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative n... | BeFree | 25482455 | Detail |
0.005 | Chronic myeloproliferative disorder | Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms. | BeFree | 25499808 | Detail |
0.005 | Chronic myeloproliferative disorder | The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia... | BeFree | 25637689 | Detail |
0.005 | Chronic myeloproliferative disorder | In this chapter, we detail the genomic alterations that underlie MPNs, with a fo... | BeFree | 25696868 | Detail |
0.005 | Chronic myeloproliferative disorder | The prognostic significance of CALR mutations likely differs among the MPN subty... | BeFree | 25873496 | Detail |
0.005 | Chronic myeloproliferative disorder | The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative ... | BeFree | 25976465 | Detail |
0.005 | Chronic myeloproliferative disorder | The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... | BeFree | 26071474 | Detail |
0.005 | Chronic myeloproliferative disorder | ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN ... | BeFree | 26280900 | Detail |
0.005 | Chronic myeloproliferative disorder | Fourteen samples from 10 patients with JAK2 and MPL wild-type myeloproliferative... | BeFree | 26486738 | Detail |
0.005 | Chronic myeloproliferative disorder | Clinical validation of a multipurpose assay for detection and genotyping of CALR... | BeFree | 26486739 | Detail |
<0.001 | Ovarian Serous Adenocarcinoma | NA | BeFree | Detail | |
<0.001 | Tumor Immunity | NA | BeFree | Detail | |
<0.001 | colorectal cancer | To accurately analyze the association between the histological types and molecul... | BeFree | 25110432 | Detail |
<0.001 | Sjogren's syndrome | Lupus-like manifestations consisted of pericarditis, pleuritis, and positive ant... | BeFree | 26216333 | Detail |
<0.001 | Rectal Tumors | NA | BeFree | Detail | |
<0.001 | Cirrhosis | NA | BeFree | Detail | |
<0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
<0.001 | liver carcinoma | NA | BeFree | Detail | |
0.003 | Sessile Serrated Adenoma/Polyp | To accurately analyze the association between the histological types and molecul... | BeFree | 25110432 | Detail |
0.003 | Sessile Serrated Adenoma/Polyp | Then we summarize the clinicopathological features, classification and molecular... | BeFree | 25263173 | Detail |
0.003 | Sessile Serrated Adenoma/Polyp | B-RAF mutation and accumulated gene methylation in aberrant crypt foci (ACF), se... | BeFree | 25314065 | Detail |
<0.001 | Bisphosphonate-associated osteonecrosis | NA | BeFree | Detail | |
<0.001 | Serrated polyp | NA | BeFree | Detail | |
<0.001 | myelodysplastic syndrome | We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in s... | BeFree | 25858548 | Detail |
0.003 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
0.002 | adenoma | NA | BeFree | Detail | |
<0.001 | Albinism | NA | BeFree | Detail | |
<0.001 | Alzheimer's disease | Serum calreticulin is a negative biomarker in patients with Alzheimer's disease. | BeFree | 25429433 | Detail |
<0.001 | Anaplasia | NA | BeFree | Detail | |
<0.001 | anemia | Patients with CALR mutation had a lower risk of developing anemia, thrombocytope... | BeFree | 24986690 | Detail |
<0.001 | anthrax disease | NA | BeFree | Detail | |
<0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
<0.001 | Astrocytoma | NA | BeFree | Detail | |
<0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
<0.001 | Mental disorders | NA | BeFree | Detail | |
<0.001 | bipolar disorder | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
0.003 | Bladder Neoplasm | NA | LHGDN | Detail | |
<0.001 | Blast Phase | Patients with CALR-mutated ET more frequently progressed to the accelerated or b... | BeFree | 25873496 | Detail |
<0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
0.001 | Malignant tumor of colon | Sessile serrated adenomas/polyps (SSA/Ps) are a putative precursor of colon canc... | BeFree | 25314065 | Detail |
<0.001 | Rectal Carcinoma | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) c... | CIViC Evidence | Detail |
We previously revealed that the calreticulin (CRT) gene is a candidate oncogene promoting cell migra... | DisGeNET | Detail |
Adenosquamous carcinoma of the head and neck: Molecular analysis using CRTC-MAML FISH and survival c... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To accurately analyze the association between the histological types and molecular features of each ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Calreticulin promotes migration and invasion of esophageal cancer cells by upregulating neuropilin-1... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Moreover, Honokiol significantly suppressed MNNG-induced gastrointestinal tumor growth and over-expr... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in samples of paediatric... | DisGeNET | Detail |
CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Knockdown CRT in gastric cancer cells was found to effectively reduce growth ability and metastasis ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Calreticulin: a new horizon for the testing and treatment of myeloproliferative neoplasms. | DisGeNET | Detail |
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. | DisGeNET | Detail |
The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative ... | DisGeNET | Detail |
CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN... | DisGeNET | Detail |
Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized ... | DisGeNET | Detail |
Frequency and molecular characteristics of calreticulin gene (CALR) mutations in patients with JAK2 ... | DisGeNET | Detail |
Calreticulin mutations in myeloproliferative neoplasms and new methodology for their detection and m... | DisGeNET | Detail |
The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms. | DisGeNET | Detail |
Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms. | DisGeNET | Detail |
The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative... | DisGeNET | Detail |
In this chapter, we detail the genomic alterations that underlie MPNs, with a focus on the recent di... | DisGeNET | Detail |
Mutations in the colony-stimulating factor 3 receptor (CSF3R) and calreticulin (CALR) genes have bee... | DisGeNET | Detail |
The prognostic significance of CALR mutations likely differs among the MPN subtypes. | DisGeNET | Detail |
The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with... | DisGeNET | Detail |
The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve th... | DisGeNET | Detail |
ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. | DisGeNET | Detail |
Fourteen samples from 10 patients with JAK2 and MPL wild-type myeloproliferative neoplasms were posi... | DisGeNET | Detail |
Clinical validation of a multipurpose assay for detection and genotyping of CALR mutations in myelop... | DisGeNET | Detail |
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Our findings suggest that NRP1 is a critical downstream effector of CRT in promoting cell migration ... | DisGeNET | Detail |
The present study provides insight into the specific biological behavior of CRT in epithelial-to-mes... | DisGeNET | Detail |
Here, we reviewed the biological roles of calreticulin and summarized the potential mechanisms of ca... | DisGeNET | Detail |
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We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in samples of paediatric... | DisGeNET | Detail |
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Taken together, our results suggest that the therapeutic inhibition of CRT by Honokiol suppresses bo... | DisGeNET | Detail |
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Only 2% of mothers positive for anti-SSA/Ro (Ro) antibodies have children with congenital heart bloc... | DisGeNET | Detail |
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Calreticulin promotes migration and invasion of esophageal cancer cells by upregulating neuropilin-1... | DisGeNET | Detail |
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CRT was significantly down-regulated in highly metastatic gastric cancer cell lines and metastatic a... | DisGeNET | Detail |
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The expression levels of three genes determined by qPCR provide a possible model for ESCC CRT predic... | DisGeNET | Detail |
Our findings suggest that NRP1 is a critical downstream effector of CRT in promoting cell migration ... | DisGeNET | Detail |
Efficient induction of anti-tumor immune response in esophageal squamous cell carcinoma via dendriti... | DisGeNET | Detail |
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To accurately analyze the association between the histological types and molecular features of each ... | DisGeNET | Detail |
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CALR mutations were not found in PV or APMF. | DisGeNET | Detail |
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Most isolates had scpA, ska, saga, and slo genes, whereas speC, speG, speH, speI, speK, smez, and ss... | DisGeNET | Detail |
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We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in samples of paediatric... | DisGeNET | Detail |
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With the discoveries of underlying mutations in JAK2, MPL, and, most recently, calreticulin (CALR), ... | DisGeNET | Detail |
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CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Calreticulin promotes migration and invasion of esophageal cancer cells by upregulating neuropilin-1... | DisGeNET | Detail |
NA | DisGeNET | Detail |
In addition to immunogenicity and tumorigenesis, interactions between calreticulin and integrins hav... | DisGeNET | Detail |
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... | DisGeNET | Detail |
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... | DisGeNET | Detail |
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... | DisGeNET | Detail |
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... | DisGeNET | Detail |
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential ... | DisGeNET | Detail |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... | DisGeNET | Detail |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... | DisGeNET | Detail |
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... | DisGeNET | Detail |
The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PM... | DisGeNET | Detail |
NA | DisGeNET | Detail |
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... | DisGeNET | Detail |
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... | DisGeNET | Detail |
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... | DisGeNET | Detail |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 w... | DisGeNET | Detail |
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... | DisGeNET | Detail |
CRT and NRP1 coexpression was significantly associated with lymph node metastasis (P = 0.025). | DisGeNET | Detail |
Sessile serrated adenomas/polyps (SSA/Ps) are a putative precursor of colon cancer with microsatelli... | DisGeNET | Detail |
Knockdown CRT in gastric cancer cells was found to effectively reduce growth ability and metastasis ... | DisGeNET | Detail |
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CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
With regard to the histological type, the IGF2 DMR0 methylation levels of SSAs (mean ± SD, 73.1 ± 12... | DisGeNET | Detail |
Then we summarize the clinicopathological features, classification and molecular profiles of the two... | DisGeNET | Detail |
The SSA/Ps are more common and are more likely to be flat than TSAs. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Calreticulin: a new horizon for the testing and treatment of myeloproliferative neoplasms. | DisGeNET | Detail |
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. | DisGeNET | Detail |
The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative ... | DisGeNET | Detail |
CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN... | DisGeNET | Detail |
Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized ... | DisGeNET | Detail |
Frequency and molecular characteristics of calreticulin gene (CALR) mutations in patients with JAK2 ... | DisGeNET | Detail |
Calreticulin mutations in myeloproliferative neoplasms and new methodology for their detection and m... | DisGeNET | Detail |
The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms. | DisGeNET | Detail |
Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms. | DisGeNET | Detail |
The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative... | DisGeNET | Detail |
In this chapter, we detail the genomic alterations that underlie MPNs, with a focus on the recent di... | DisGeNET | Detail |
The prognostic significance of CALR mutations likely differs among the MPN subtypes. | DisGeNET | Detail |
The true frequency of the JAK2 46/1 haplotype in patients of myeloproliferative neoplasms (MPN) with... | DisGeNET | Detail |
The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve th... | DisGeNET | Detail |
ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. | DisGeNET | Detail |
Fourteen samples from 10 patients with JAK2 and MPL wild-type myeloproliferative neoplasms were posi... | DisGeNET | Detail |
Clinical validation of a multipurpose assay for detection and genotyping of CALR mutations in myelop... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To accurately analyze the association between the histological types and molecular features of each ... | DisGeNET | Detail |
Lupus-like manifestations consisted of pericarditis, pleuritis, and positive antinuclear and anti-SS... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To accurately analyze the association between the histological types and molecular features of each ... | DisGeNET | Detail |
Then we summarize the clinicopathological features, classification and molecular profiles of the two... | DisGeNET | Detail |
B-RAF mutation and accumulated gene methylation in aberrant crypt foci (ACF), sessile serrated adeno... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We analysed CSF3R exons 14 and 17, and CALR exon 9, using direct sequencing in samples of paediatric... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Serum calreticulin is a negative biomarker in patients with Alzheimer's disease. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Patients with CALR mutation had a lower risk of developing anemia, thrombocytopenia, and marked leuk... | DisGeNET | Detail |
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NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Patients with CALR-mutated ET more frequently progressed to the accelerated or blast phases compared... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Sessile serrated adenomas/polyps (SSA/Ps) are a putative precursor of colon cancer with microsatelli... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg19
- Position
- chr19:13,049,423-13,055,303
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2388
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