DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.020 AlteredExpression disease BEFREE Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. 23593020 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.020 Biomarker disease BEFREE Our findings demonstrate a role for DUX4 and repetitive elements in mammalian germline evolution and in FSHD muscular dystrophy. 24278031 2013