DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Disease: Congenital Myotonic Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 PosttranslationalModification disease BEFREE Increasing evidence supports a role of a CTCF binding motif as a cis-element, upstream of the DMPK CTG tract, whereby CpG methylation of this site regulates the interaction of the insulator protein CTCF as a modulating trans-factor responsible for the inheritance and expression of CDM1. 31326502 2019
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 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
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 Biomarker disease BEFREE Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. 20179953 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 AlteredExpression disease BEFREE Decreased levels of DMPK (Dystrophia Myotonica-protein kinase), SIX5, a transcription factor or MBNL1 (Muscleblind-like 1), an RNA splice regulator have been demonstrated to contribute to distinct features of cDM1. 20360842 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 AlteredExpression disease BEFREE Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. 12598332 2003
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 GeneticVariation disease BEFREE We report a family with congenital myotonic dystrophy (CDM) transmitted from an asymptomatic DM father; we analyzed the haplotype of this family by using polymorphism within and by flanking the DM protein kinase locus. 9258965 1997
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.360 AlteredExpression disease BEFREE In congenital myotonic dystrophy (MD) patients, one month and 3 months old, M-PK was weakly expressed at sarcolemma of muscle fibers. 8930628 1996