Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565

2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921

2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 25343993

2015
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629

2015
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748

2013
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449

2008
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A lethal autosomal recessive syndrome of multiple congenital contractures. 3993672

1985