TRAF3, TNF receptor associated factor 3, 7187

N. diseases: 129; N. variants: 15
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 Biomarker disease BEFREE Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. 30723199 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 Biomarker disease BEFREE These scientific contributions strengthen the role of LAP1 in DYT1 dystonia and muscular dystrophy. 26596547 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 GeneticVariation disease BEFREE Conditional deletion of LAP1 from striated muscle causes muscular dystrophy; this pathology is worsened in the absence of emerin. 24055652 2013