JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Myotonic Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.010 GeneticVariation disease BEFREE The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1). 17387722 2007