GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.020 GeneticVariation disease BEFREE Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. 28657126 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.020 GeneticVariation disease BEFREE Mutations linked to motor neuron diseases cause decreased Gle1 thermostability, implicating nucleoporin misfolding as a disease determinant. 29899397 2018