XPO1, exportin 1, 7514

N. diseases: 178; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11125883
rs11125883
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0007112
Disease:
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0009404
Disease:
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0009404
Disease:
Colorectal Neoplasms
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0009404
Disease:
Colorectal Neoplasms
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0007112
Disease:
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0007112
Disease:
Adenocarcinoma of prostate
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520010
rs1057520010
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C1333064
Disease:
Classical Hodgkin's Lymphoma
0.020 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C2347747
Disease:
Adult Classical Hodgkin Lymphoma
0.020 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0242596
Disease:
Neoplasm, Residual
0.020 GeneticVariation BEFREE Therefore, it was proposed that the XPO1 E571K variant may serve as a minimal residual disease tool in this setting. 28196522 2017
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0242596
Disease:
Neoplasm, Residual
0.020 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C1333064
Disease:
Classical Hodgkin's Lymphoma
0.020 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C2347747
Disease:
Adult Classical Hodgkin Lymphoma
0.020 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation 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
dbSNP: rs1057520009
rs1057520009
Entrez Id: 7514
Gene Symbol: XPO1
XPO1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Emerging evidence suggests that the mutant XPO1 E571K plays a role in carcinogenesis, and this variant is quantifiable in tumor and plasma cell-free DNA of patients using highly sensitive molecular biology techniques, such as digital PCR and next-generation sequencing. 28196522 2017