Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
0.030 Biomarker disease BEFREE MBNL2 binds directly to DM repeat expansions in the brain, resulting in depletion from its normal RNA targets with downstream effects on alternative splicing and polyadenylation. 26257173 2015
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
0.030 Biomarker disease BEFREE We propose that major pathological features of the DM brain result from disruption of the MBNL2-mediated developmental splicing program. 22884328 2012
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
0.030 Biomarker disease BEFREE Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. 21303839 2011