MXD4, MAX dimerization protein 4, 10608

N. diseases: 19; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Next, we performed RNA sequencing of the tumor sample and identified two in-frame fusion transcripts: MXD4-NUTM1 and ARL6-POT1. 30338611 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE TCR sequence analysis was possible in four cases and identified three Mad-4 and one type II sequences; the TCR genomic structures of JCV isolated from cerebrospinal fluid were the same as those sequenced from corresponding tumour tissue, thus indicating a possible cerebrospinal fluid dissemination of neoplastic cells carrying viral DNA. 14506971 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Further examination of the samples for the JC virus regulatory region identified the presence of sequences identical to JC virus Mad-4 and JC virus W1 viral isolates in the tumor and the demyelinated regions. 11914404 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Sequencing of the viral control region determined the presence of JCPyV Mad-4 or JCPyV(CY) in these tumors. 12429619 2002
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma 		0.020 Biomarker disease BEFREE Two novel fusion partners were identified: MGA in two sarcomas (myxoid spindle cell sarcoma and undifferentiated sarcoma) (2/24 cases 8.3%) and MXD4 in a round cell sarcoma in the cecum (1/24 cases 4.2%). 30723300 2019
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma 		0.020 AlteredExpression disease BEFREE Novel MXD4-NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma. 30338611 2018
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell 		0.010 Biomarker disease BEFREE Two novel fusion partners were identified: MGA in two sarcomas (myxoid spindle cell sarcoma and undifferentiated sarcoma) (2/24 cases 8.3%) and MXD4 in a round cell sarcoma in the cecum (1/24 cases 4.2%). 30723300 2019
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		0.010 Biomarker disease BEFREE Two novel fusion partners were identified: MGA in two sarcomas (myxoid spindle cell sarcoma and undifferentiated sarcoma) (2/24 cases 8.3%) and MXD4 in a round cell sarcoma in the cecum (1/24 cases 4.2%). 30723300 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE Dissecting the complex regulation of Mad4 in glioblastoma multiforme cells. 22895069 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE Dissecting the complex regulation of Mad4 in glioblastoma multiforme cells. 22895069 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0014474
Disease: Ependymoma
Ependymoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 GeneticVariation disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 GeneticVariation disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.010 GeneticVariation disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 GeneticVariation disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 Biomarker disease BEFREE TCR sequence analysis of the oligodendroglioma showed a JCV rearranged structure not related to a known viral strain, while the astrocytoma and the ependymoma disclosed a JCV Mad-4 strain that is known to induce brain tumors in animals. 10746685 2000
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.010 Biomarker disease BEFREE Sequencing of the JCV regulatory region from the lymphocytes of three patients revealed the prototype MAD-1 strain of JCV in one patient with PML, a MAD-4 strain in a second patient with PML, and a slightly modified MAD-4 strain in an HIV-1-positive patient without PML. 1316734 1992