| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.370 | Biomarker | disease | BEFREE | Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n expansion in ZNF9/CNBP. | 24882752 | 2015 | ||||
|
0.370 | Biomarker | disease | CTD_human | Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). | 24039817 | 2013 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (DM1) and (ii) myotonic dystrophy type 2 (DM2) respectively. | 23570879 | 2013 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Both DM1 and DM2 are caused by unstable DNA repeats in untranslated regions of different genes: A (CTG)n repeat in the 3'-UTR of the DMPK gene and a (CCTG)n repeat in intron 1 of the CNBP (formerly ZNF9) gene, respectively. | 22643181 | 2012 | ||||
|
0.370 | Biomarker | disease | BEFREE | The commonly recognized RNA gain-of-function mechanism of DM1 and DM2 suggests that the mutant CUG and CCUG RNAs play a critical role in myotonic dystrophies (DMs) without a significant role of DMPK and ZNF9. | 20458885 | 2010 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | The mutation responsible for DM1 is a CTG repeat in the 3' UTR of the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q13.3, while DM2 is caused by an unstable CCTG expansion in intron 1 of the zinc finger protein 9 gene (ZNF9) on chromosome 3q21.3. | 15652222 | 2005 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Myotonic dystrophy type 1 is caused by a (CTG)n expansion in the 3' untranslated region of the DMPK gene in 19q13.3 and myotonic dystrophy type 2 by a (CCTG)n expansion in intron 1 of ZNF9 in 3q21.3. | 15019706 | 2004 | ||||
|
0.370 | Biomarker | disease | BEFREE | Proximal myotonic myopathy (PROMM) was first described in 1994 as a multisystem disorder with similarity to myotonic dystrophy (DM), but without the abnormal (CTG)n expansion in the DM protein kinase (DMPK) gene. | 10665666 | 1999 |