GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 25343993 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR A lethal autosomal recessive syndrome of multiple congenital contractures. 3993672 1985