DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
Disease: Facioscapulohumeral muscular dystrophy 1a ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 AlteredExpression disease BEFREE Aberrant expression of DUX4, a gene unique to humans and primates, causes Facioscapulohumeral Muscular Dystrophy-1 (FSHD), yet the pathogenic mechanism is unknown. 31306642 2019
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 GeneticVariation disease BEFREE The genetic cause of FSHD1 is contraction of the D4Z4 macrosatellite array on chromosome 4 alleles associated with a permissive haplotype causing infrequent sporadic expression of the DUX4 gene. 30122154 2018
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 Biomarker disease GENOMICS_ENGLAND Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy. 27672539 2016
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 AlteredExpression disease BEFREE Facioscapulohumeral muscular dystrophy 1 (FSHD1) is caused by a contraction in the number of D4Z4 repeats on chromosome 4, resulting in relaxation of D4Z4 chromatin causing inappropriate expression of DUX4 in skeletal muscle. 24755953 2015
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.330 Biomarker disease GENOMICS_ENGLAND