GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C1854664
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.810 GeneticVariation BEFREE The homozygous Fin<sub>Major</sub> mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound Fin<sub>Major</sub> mutation together with p.R569H, p.V617M or p.I684T missense mutation. 28657126 2018
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C1854664
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		0.810 GeneticVariation UNIPROT Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C1854664
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121434408
rs121434408
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.800 GeneticVariation UNIPROT Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
dbSNP: rs121434409
rs121434409
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.800 GeneticVariation UNIPROT Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008
dbSNP: rs121434408
rs121434408
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121434409
rs121434409
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		0.710 GeneticVariation BEFREE The homozygous Fin<sub>Major</sub> mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound Fin<sub>Major</sub> mutation together with p.R569H, p.V617M or p.I684T missense mutation. 28657126 2018
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C2678471
Disease:
Lethal Arthrogryposis With Anterior Horn Cell Disease 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921 2017
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 25343993 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 25343993 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR An exome sequencing strategy to diagnose lethal autosomal recessive disorders. 24961629 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 25343993 2015
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences. 23421748 2013
dbSNP: rs121434407
rs121434407
Entrez Id: 2733;101929270
Gene Symbol: GLE1;LOC101929270
GLE1;LOC101929270
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 18204449 2008