UGT8, UDP glycosyltransferase 8, 7368

N. diseases: 49; N. variants: 3
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 		0.020 GeneticVariation disease BEFREE CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers. 10526658 1999
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.020 GeneticVariation disease BEFREE Myotonic dystrophy (DM) is an autosomal dominant trait closely associated with CGT repeat expansions in the same locus on human chromosome 19q13.3. 8769131 1996