XPO1, exportin 1, 7514

N. diseases: 178; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
0.020 GeneticVariation disease BEFREE To conclude, the detection of the XPO1 E571K mutation in biopsy and plasma cell-free DNA by digital PCR may be used as a novel biomarker in classical Hodgkin lymphoma for both diagnosis and minimal residual disease, and pinpoints a crucial role of XPO1 in classical Hodgkin lymphoma pathogenesis. 27479820 2016
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma
0.020 GeneticVariation disease BEFREE To conclude, the detection of the XPO1 E571K mutation in biopsy and plasma cell-free DNA by digital PCR may be used as a novel biomarker in classical Hodgkin lymphoma for both diagnosis and minimal residual disease, and pinpoints a crucial role of XPO1 in classical Hodgkin lymphoma pathogenesis. 27479820 2016
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma
0.020 GeneticVariation disease BEFREE Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma. 28196522 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 GeneticVariation disease BEFREE In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 × 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 × 10(-9)). 21750575 2011
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 GeneticVariation disease BEFREE XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197). 27312795 2016
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197). 27312795 2016
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197). 27312795 2016
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.010 GeneticVariation phenotype BEFREE Therefore, it was proposed that the XPO1 E571K variant may serve as a minimal residual disease tool in this setting. 28196522 2017
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.010 GeneticVariation phenotype BEFREE Based on this 1:2 matched case-control study, the AA genotype of rs4430924 in XPO1 may be associated with higher risk of anti-TB drug-induced hepatotoxicity in Chinese anti-TB treatment patients. 30817003 2019
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation disease BEFREE Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma. 28196522 2017
Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197). 27312795 2016
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis
0.010 GeneticVariation disease BEFREE Excepting NOTCH1, TP53 and XPO1, which showed a lower incidence in MBL, genes were mutated with a similar prevalence to CLL, indicating the early origin of most driver mutations in the MBL/CLL continuum. 27469216 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.440 Biomarker disease BEFREE Together, these findings demonstrate that XPO1 is a valid target in CLL with minimal effects on normal cells and provide a basis for the development of SINEs in CLL and related hematologic malignancies. 23034282 2012
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.440 Biomarker disease BEFREE The survival of chronic lymphocytic leukaemia (CLL) cells, among other cancer cells, is assisted by the deregulation of nuclear to cytoplasmic shuttling, at least in part through deregulation of the transport receptor XPO1 and the constitutive activation of PI3K-mediated signaling pathways. 31710039 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 Biomarker disease BEFREE Therefore, XPO1 inhibition could be a novel promising agent used in combination with conventional chemotherapeutics and AR-targeted therapy for the better treatment of PCa, especially CRPC. 30450161 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.340 Biomarker disease BEFREE PXD101 potentiates hormonal therapy and prevents the onset of castration-resistant phenotype modulating androgen receptor, HSP90, and CRM1 in preclinical models of prostate cancer. 23507703 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.120 Biomarker group BEFREE Remodeling metabolic pathways to regenerate new vulnerabilities in endocrine resistant breast tumors is novel, and given the need for better strategies to improve therapy response in relapsed ERα (+) tumors, our findings show great promise for uncovering the role that ERα-XPO1 crosstalk plays in reducing cancer recurrences. 30987380 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Chromosome region maintenance 1 (CRM1) exports nuclear export signal (NES) containing cargos from nucleus to cytoplasm and plays critical roles in cancer and viral infections. 31495993 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Our findings provide strong rationale for inhibiting XPO1 as an innovative strategy for the combined anti-retroviral and anti-neoplastic treatment of HIV and PEL and offer perspectives for the treatment of other AIDS-associated cancers and potentially other virus-related malignancies. 26501108 2015