EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.310 GeneticVariation disease BEFREE Point mutations that cause dilated cardiomyopathy (L85R and N195K) and autosomal dominant Emery-Dreifuss muscular dystrophy (L530P) modify the assembly properties of lamins A and C and cause partial mislocalization of emerin, an inner nuclear membrane protein, in HeLa cells. 11792810 2001
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.310 Biomarker disease CTD_human