TOR1AIP1, torsin 1A interacting protein 1, 26092

N. diseases: 39; N. variants: 4
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 		0.170 Biomarker disease BEFREE Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. 31299614 2020
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.170 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 		0.170 Biomarker disease BEFREE A recently identified muscular dystrophy gene TOR1AIP1 was detected as a hub gene in dysferlinopathy. 28110863 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.170 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 		0.170 GeneticVariation disease BEFREE We report a family with mutations in TOR1AIP1 where the striking clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular dystrophy. 27342937 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.170 GeneticVariation disease BEFREE Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. 24856141 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.170 GeneticVariation disease BEFREE Conditional deletion of LAP1 from striated muscle causes muscular dystrophy; this pathology is worsened in the absence of emerin. 24055652 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.170 Biomarker disease HPO