| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.480 | Biomarker | disease | BEFREE | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. | 30895940 | 2019 | ||||
|
0.480 | Biomarker | disease | CTD_human | Pargyline, an MAO inhibitor, reduced ROS accumulation along with a beneficial effect on the dystrophic phenotype of Col6a1(-/-) mice, a model of Bethlem myopathy and Ullrich congenital MD, and mdx mice, a model of Duchenne MD. | 20716577 | 2010 | ||||
|
0.480 | Biomarker | disease | BEFREE | We have investigated the therapeutic effects of the selective cyclophilin inhibitor D-MeAla(3)-EtVal(4)-cyclosporin (Debio 025) in myopathic Col6a1(-/-) mice, a model of muscular dystrophies due to defects of collagen VI. | 19519726 | 2009 | ||||
|
0.480 | GeneticVariation | disease | LHGDN | Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. | 18366090 | 2008 | ||||
|
0.480 | GeneticVariation | disease | BEFREE | COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. | 16278855 | 2006 | ||||
|
0.480 | GeneticVariation | disease | LHGDN | Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. | 15563506 | 2005 | ||||
|
0.480 | GeneticVariation | disease | LHGDN | Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. | 16130093 | 2005 | ||||
|
0.480 | GeneticVariation | disease | LHGDN | New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. | 12840783 | 2003 | ||||
|
0.480 | GeneticVariation | disease | LHGDN | Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. | 12011280 | 2002 | ||||
|
0.480 | Biomarker | disease | HPO |