DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Disease: Myotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027125
Disease: Myotonia
Myotonia 		0.600 Biomarker phenotype CTD_human Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). 24039817 2013
CUI: C0027125
Disease: Myotonia
Myotonia 		0.600 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0027125
Disease: Myotonia
Myotonia 		0.600 Biomarker phenotype HPO