GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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