Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 Biomarker BEFREE Aberrant expression of the full-length isoform of DUX4 (DUX4-FL) appears to underlie pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). 29618456

2018

Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 AlteredExpression BEFREE Here, we demonstrate that a CRISPR/dCas9 transcriptional inhibitor can be specifically targeted to the highly repetitive FSHD macrosatellite array and alter the chromatin to repress expression of DUX4-fl in primary FSHD myocytes. 26527377

2016

Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 AlteredExpression BEFREE However, this does not account for the tissue specificity of FSHD pathology, which requires stable expression of an alternative full-length mRNA splice form of DUX4 (DUX4-fl) from the D4Z4 array in skeletal muscle. 24636994

2014

Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 AlteredExpression BEFREE Our results suggest that the misexpression of DUX4-fl, even at extremely low level, can recapitulate the phenotype observed in FSHD patients in a vertebrate model. 23108159

2013

Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 Biomarker LHGDN The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. 17588759

2007

Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
Muscular Dystrophy, Facioscapulohumeral
0.350 GeneticVariation ORPHANET