Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
0.020 Biomarker disease BEFREE Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. 16301494 2005
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
0.020 GeneticVariation disease BEFREE Myotonic dystrophy (DM) is caused by either an untranslated CTG expansion in the 3' untranslated region of the DMPK gene on chromosome 19 (dystrophia myotonica type 1 [DM1]), or an untranslated CCTG tetranucleotide repeat expansion in intron 1 of the ZNF9 gene on chromosome 3 (dystrophia myotonica type 2 [DM2]). 15114529 2004