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: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 GeneticVariation disease ORPHANET
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 Biomarker disease BEFREE Moreover, the study identifies the role of DUX4 that is closely linked to facioscapulohumeral muscular dystrophy in transcriptional regulation. 16717057 2006
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 AlteredExpression disease BEFREE Our results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease. 17984056 2007
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 GeneticVariation disease BEFREE Together with the conservation of the DUX4 ORF for >100 million years, this strongly supports a coding function for D4Z4 and necessitates re-examination of current models of the FSHD disease mechanism. 17668377 2007
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 AlteredExpression disease BEFREE Using RT-PCR we also recognized expressed DUX4 mRNAs in primary FSHD myoblasts. 17588759 2007
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.030 AlteredExpression disease BEFREE A DUX4-related protein is endogenously expressed in nuclei of adult and fetal human rhabdomyosarcoma cell lines. 17588759 2007
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		0.030 AlteredExpression disease BEFREE A DUX4-related protein is endogenously expressed in nuclei of adult and fetal human rhabdomyosarcoma cell lines. 17588759 2007
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.030 AlteredExpression disease BEFREE A DUX4-related protein is endogenously expressed in nuclei of adult and fetal human rhabdomyosarcoma cell lines. 17588759 2007
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 Biomarker disease BEFREE Facioscapulohumeral muscular dystrophy (FSHD) is caused by contractions of D4Z4 repeats at 4q35.2 thought to induce misregulation of nearby genes, one of which, DUX4, is actually localized within each repeat. 19756142 2009
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 AlteredExpression disease BEFREE DUX4 and its target genes contribute to the global dysregulation of gene expression observed in FSHD. 19829708 2009
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 GeneticVariation disease BEFREE A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. 19607661 2009
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.600 GeneticVariation disease BEFREE Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. 19837262 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE The involvement of the DUX4 region might represent the genetic hallmark of a novel subclass of small round cell tumors. 19837262 2009
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.100 Biomarker group BEFREE Described here are two tumors belonging to the rare category of CIC-DUX4-positive primitive sarcomas, with detailed cytogenetic and genomic information regarding this novel subclass of pediatric malignancy. 19837261 2009
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.100 Biomarker group BEFREE Described here are two tumors belonging to the rare category of CIC-DUX4-positive primitive sarcomas, with detailed cytogenetic and genomic information regarding this novel subclass of pediatric malignancy. 19837261 2009