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

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

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

CausalMutation

CLINVAR

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

21560189

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:

rs28939717

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

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

CausalMutation

CLINVAR

Genotype-phenotype correlation in vanishing white matter disease.

20975056

2010

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:

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:

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:

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:

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:

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:

rs28939717

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

EIF2B5;LOC105374249

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

CausalMutation

CLINVAR

Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

15060152

2004

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:

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:

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:

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:

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:

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:

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:

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

CausalMutation

CLINVAR

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

11704758

2001

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:

rs28937596

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

CausalMutation

CLINVAR

dbSNP:

rs397514646

Entrez Id:	8893
Gene Symbol:	EIF2B5

EIF2B5

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

CausalMutation

CLINVAR

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