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: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.740 CausalMutation CLINVAR

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.720 CausalMutation CLINVAR

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 Biomarker HPO

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.120 Biomarker HPO

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker HPO

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.110 Biomarker HPO

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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565

2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629

2015
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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