DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 GeneticVariation group BEFREE A 47-year-old male who had an increased CTG repeat of approximately 700 copies in the 3'-untranslated region of the myotonic dystrophy protein kinase gene underwent closure of an atrial septal defect under normothermic beating heart. 17652903 2007