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 HPO
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 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 BEFREE Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. 31299614 2020
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 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 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