GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 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: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 GeneticVariation disease BEFREE We also suggest that lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. 27684565 2017
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease BEFREE These results identify a mechanistic step in Gle1's mRNA export function at nuclear pore complexes and directly implicate altered export in LCCS1 disease pathology. 24243016 2013
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease BEFREE We propose that defective GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors. 22357925 2012
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 GermlineCausalMutation disease ORPHANET Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease CTD_human Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 GeneticVariation disease UNIPROT Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 16892327 2006
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 CausalMutation disease CLINVAR
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 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: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 GeneticVariation disease BEFREE We hypothesize that mutations that preserve function of the coiled-coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled-coil domain cause LCCS. 28884921 2017
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease GENOMICS_ENGLAND Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 GeneticVariation disease UNIPROT Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 GermlineCausalMutation disease ORPHANET Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease GENOMICS_ENGLAND Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 16892327 2006
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease CTD_human
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 CausalMutation disease CLINVAR
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 GeneticVariation disease BEFREE Our results suggest that pathogenic variants in the GLE1 gene are rare in Chinese ALS patients. 29398120 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 Biomarker disease BEFREE Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein). 28980860 2017