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:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

19158808

2009

dbSNP:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Ovarian failure related to eukaryotic initiation factor 2B mutations.

12707859

2003

dbSNP:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of ten novel mutations in patients with eIF2B-related disorders.

15776425

2005

dbSNP:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

11704758

2001

dbSNP:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

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

12325082

2002

dbSNP:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

21484434

2011

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

19158808

2009

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

11704758

2001

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Ovarian failure related to eukaryotic initiation factor 2B mutations.

12707859

2003

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of ten novel mutations in patients with eIF2B-related disorders.

15776425

2005

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

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

12325082

2002

dbSNP:

rs28939717

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

21484434

2011

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

21484434

2011

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of ten novel mutations in patients with eIF2B-related disorders.

15776425

2005

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

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

12325082

2002

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

19158808

2009

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Ovarian failure related to eukaryotic initiation factor 2B mutations.

12707859

2003

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

11704758

2001

dbSNP:

rs113994049

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1847967
Disease:

OVARIOLEUKODYSTROPHY

0.710

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:

rs113994054

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.710

GeneticVariation

BEFREE

Whole-exome sequencing identified two heterozygous mutations in the EIF2B5 gene: a known mutation, c.584G>A (R195H, which is homozygous in CLE), and a novel mutation, c.1223T>C (I408T, which resides in the "I-patch").

25457085

2015

dbSNP:

rs113994044

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994045

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994046

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994048

Entrez Id:	8893;105374249
Gene Symbol:	EIF2B5;LOC105374249

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994050

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT