Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.020 Biomarker disease BEFREE Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy. 30326651 2018
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.020 GeneticVariation disease BEFREE We have investigated Samp1 (Spindle Associated Membrane Protein 1), a transmembrane nuclear envelope protein, which interacts with emerin and lamin A, both of which are linked to Emery-Dreifuss muscular dystrophy (EDMD). 29192166 2017