DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019372
Disease: Herpesviridae Infections
Herpesviridae Infections 		0.010 AlteredExpression group BEFREE TRIM43 was distinguished by its ability to restrict a broad range of herpesviruses and its profound upregulation during herpesvirus infection as part of a germline-specific transcriptional program mediated by the transcription factor DUX4. 30420784 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		0.010 Biomarker disease BEFREE Sarcoma With CIC-DUX4 Gene Fusion: Case Report of Kidney Tumor Location in a 12-year-old Boy. 28466754 2019
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		0.010 Biomarker group BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		0.010 Biomarker disease BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		0.010 AlteredExpression disease BEFREE This work provides evidence that repurposing a clinically advanced p38 inhibitor may provide the first disease-modifying drug for FSHD by suppressing toxic DUX4 expression, the root cause of muscle degeneration in this disease. 31189728 2019
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		0.010 Biomarker group BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		0.010 Biomarker disease BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		0.010 AlteredExpression disease BEFREE Yet, how sporadic DUX4 expression leads to the generalized muscle wasting remains unclear. 30445587 2019
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		0.010 GeneticVariation disease BEFREE We find that FSHD and BAMS patient's cells carrying SMCHD1 mutations are both permissive for DUX4 expression, a transcription factor whose regulation has been proposed as the main trigger for FSHD. 30698748 2019
CUI: C2219809
Disease: Generalized muscle wasting
Generalized muscle wasting 		0.010 AlteredExpression phenotype BEFREE Yet, how sporadic DUX4 expression leads to the generalized muscle wasting remains unclear. 30445587 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 Biomarker group BEFREE DUX4 plays critical role in the molecular pathogenesis of the neuromuscular disorder facioscapulohumeral muscular dystrophy and acute lymphoblastic leukemia in humans. 30322619 2018
CUI: C0030552
Disease: Paresis
Paresis 		0.010 Biomarker phenotype BEFREE This strategy was not designed to modulate DUX4 but could offer a mechanism to improve muscle weakness caused by DUX4-induced damage. 30429376 2018
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.010 AlteredExpression group BEFREE DUX4 expression induces atrophic myotubes and associated FSHD markers. 29329560 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 Biomarker phenotype BEFREE This strategy was not designed to modulate DUX4 but could offer a mechanism to improve muscle weakness caused by DUX4-induced damage. 30429376 2018
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma 		0.010 Biomarker disease BEFREE The CIC-DUX4 sarcoma is a small round blue cell sarcoma which presents like extraskeletal Ewing sarcoma, but is negative for the EWSR1 gene translocation. 30353686 2018
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 GeneticVariation disease BEFREE Finally, the key role of C1 in DNA binding also explains the fact that this domain is a hotspot for inactivating mutations in oligodendroglioma and other tumors, while being preserved in oncogenic CIC-DUX4 fusion chimeras associated to Ewing-like sarcomas. 28278156 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		0.010 Biomarker disease BEFREE DUX4 immunohistochemistry exhibited diffuse, crisp, strong nuclear staining in all CIC-DUX4 fusion-positive round cell tumors (5/5, 100% sensitivity), and exhibited negative staining in nuclei of all of the other tested round cell tumors, including 20 Ewing sarcomas, 1 Ewing-like sarcoma, 11 alveolar rhabdomyosarcomas, 9 embryonal rhabdomyosarcomas, 12 synovial sarcomas, 7 desmoplastic small round cell tumors, 3 malignant rhabdoid tumors, 9 neuroblastomas, and 4 clear cell sarcomas (0/76, 100% specificity). 27879517 2017
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE We report the case of a 29 year-old male patient with a primary CIC-DUX4 sarcoma of the kidney with lung metastasis. 27919577 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.010 Biomarker disease BEFREE DUX4 immunohistochemistry exhibited diffuse, crisp, strong nuclear staining in all CIC-DUX4 fusion-positive round cell tumors (5/5, 100% sensitivity), and exhibited negative staining in nuclei of all of the other tested round cell tumors, including 20 Ewing sarcomas, 1 Ewing-like sarcoma, 11 alveolar rhabdomyosarcomas, 9 embryonal rhabdomyosarcomas, 12 synovial sarcomas, 7 desmoplastic small round cell tumors, 3 malignant rhabdoid tumors, 9 neuroblastomas, and 4 clear cell sarcomas (0/76, 100% specificity). 27879517 2017
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		0.010 Biomarker disease BEFREE DUX4 immunohistochemistry exhibited diffuse, crisp, strong nuclear staining in all CIC-DUX4 fusion-positive round cell tumors (5/5, 100% sensitivity), and exhibited negative staining in nuclei of all of the other tested round cell tumors, including 20 Ewing sarcomas, 1 Ewing-like sarcoma, 11 alveolar rhabdomyosarcomas, 9 embryonal rhabdomyosarcomas, 12 synovial sarcomas, 7 desmoplastic small round cell tumors, 3 malignant rhabdoid tumors, 9 neuroblastomas, and 4 clear cell sarcomas (0/76, 100% specificity). 27879517 2017
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 GeneticVariation disease BEFREE Finally, the key role of C1 in DNA binding also explains the fact that this domain is a hotspot for inactivating mutations in oligodendroglioma and other tumors, while being preserved in oncogenic CIC-DUX4 fusion chimeras associated to Ewing-like sarcomas. 28278156 2017
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.010 GeneticVariation disease BEFREE Finally, the key role of C1 in DNA binding also explains the fact that this domain is a hotspot for inactivating mutations in oligodendroglioma and other tumors, while being preserved in oncogenic CIC-DUX4 fusion chimeras associated to Ewing-like sarcomas. 28278156 2017
CUI: C0346251
Disease: Sarcoma of kidney
Sarcoma of kidney 		0.010 Biomarker disease BEFREE We report the case of a 29 year-old male patient with a primary CIC-DUX4 sarcoma of the kidney with lung metastasis. 27919577 2017
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 GeneticVariation disease BEFREE Finally, the key role of C1 in DNA binding also explains the fact that this domain is a hotspot for inactivating mutations in oligodendroglioma and other tumors, while being preserved in oncogenic CIC-DUX4 fusion chimeras associated to Ewing-like sarcomas. 28278156 2017
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		0.010 Biomarker disease BEFREE DUX4 immunohistochemistry exhibited diffuse, crisp, strong nuclear staining in all CIC-DUX4 fusion-positive round cell tumors (5/5, 100% sensitivity), and exhibited negative staining in nuclei of all of the other tested round cell tumors, including 20 Ewing sarcomas, 1 Ewing-like sarcoma, 11 alveolar rhabdomyosarcomas, 9 embryonal rhabdomyosarcomas, 12 synovial sarcomas, 7 desmoplastic small round cell tumors, 3 malignant rhabdoid tumors, 9 neuroblastomas, and 4 clear cell sarcomas (0/76, 100% specificity). 27879517 2017