DisGeNET - a database of gene-disease associations

EIF2B4, eukaryotic translation initiation factor 2B subunit delta, 8890

N. diseases: 63; N. variants: 13

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:

rs2280737

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs2280737

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs7602534

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs7602534

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

23263486

2013

dbSNP:

rs2280737

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs2280737

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs7602534

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs7602534

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASDB

Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

20884846

2010

dbSNP:

rs113994027

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994028

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994031

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994035

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994037

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994038

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1847967
Disease:

OVARIOLEUKODYSTROPHY

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994038

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113994040

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1847967
Disease:

OVARIOLEUKODYSTROPHY

0.700

CausalMutation

CLINVAR

dbSNP:

rs113994040

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1347693309

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.010

GeneticVariation

BEFREE

We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12.

25758335

2015

dbSNP:

rs1406758215

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.010

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:

rs184607650

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

CUI:	C0270612
Disease:

Leukoencephalopathy

0.010

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:

rs368243788

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0270612
Disease:

Leukoencephalopathy

0.010

GeneticVariation

BEFREE

18678442

2008

dbSNP:

rs184607650

Entrez Id:	8890
Gene Symbol:	EIF2B4

EIF2B4

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:

rs368243788

Entrez Id:	8890;9784
Gene Symbol:	EIF2B4;SNX17

EIF2B4;SNX17

CUI:	C0026769
Disease:

Multiple Sclerosis

0.010

GeneticVariation

BEFREE

Arg113His mutation of vanishing white matter is not present in multiple sclerosis.

17439913

2007