DisGeNET - a database of gene-disease associations

EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon, 8893

N. diseases: 84; N. variants: 32

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs113994055

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994057

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994058

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994060

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994062

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994063

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994067

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994068

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994079

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994080

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994085

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C0270612
Disease:

Leukoencephalopathy

0.020

GeneticVariation

BEFREE

Our data suggest that the Arg113His mutation is particularly mild and should be considered in the differential diagnosis of adult diffuse leukoencephalopathies, independent of whether there are associated clinical signs, an episodic course, or MRI shows white matter rarefaction/cystic degeneration.

15136689

2004

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C0270612
Disease:

Leukoencephalopathy

0.020

GeneticVariation

BEFREE

A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His.

18678442

2008

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C0026769
Disease:

Multiple Sclerosis

0.010

GeneticVariation

BEFREE

A patient with trauma-associated onset, and clinical features compatible with multiple sclerosis (MS), was homozygous for G338A mutation of eukaryotic translation initiation factor (eIF2B5).

17439913

2007

dbSNP:

rs113994060

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1847967
Disease:

OVARIOLEUKODYSTROPHY

0.010

GeneticVariation

BEFREE

Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

22699478

2011

dbSNP:

rs843358

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C0026769
Disease:

Multiple Sclerosis

0.010

GeneticVariation

BEFREE

During the present course of study, we could not find statistically significant difference in the frequency of Ile587Val between MS patients and controls, thus indicating that such alteration does not appear to influence MS development in Kashmiri population.

26671108

2015

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1847967
Disease:

OVARIOLEUKODYSTROPHY

0.710

CausalMutation

CLINVAR

dbSNP:

rs113994054

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.710

CausalMutation

CLINVAR

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

12325082

2002

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Ovarian failure related to eukaryotic initiation factor 2B mutations.

12707859

2003

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in vanishing white matter disease.

20975056

2010

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

24938145

2014

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

22952606

2012

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

22699478

2011

dbSNP:

rs113994064

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994069

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in vanishing white matter disease.

20975056

2010