Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
TOR1AIP1 Torsin A interacting protein 1      | 1q25.2 | * LAP1B related muscular dystrophy - (1.9, 11.41) * Congenital myasthenic syndrome - (1.9, 11.41) * Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 11.41)* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 11.41) |