TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
Disease: Muscular Dystrophy, Emery-Dreifuss ×
Source: ALL
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 		0.320 GeneticVariation disease BEFREE Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. 24365856 2014
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.320 Biomarker disease BEFREE We therefore analyzed TMEM43, which encodes LUMA, a newly identified nuclear membrane protein and also a binding partner of emerin and lamins, to investigate whether LUMA may contribute to the pathomechanism of EDMD-related myopathy. 21391237 2011
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.320 Biomarker disease CTD_human