DisGeNET - a database of gene-disease associations

EIF2B3, eukaryotic translation initiation factor 2B subunit gamma, 8891

N. diseases: 36; N. variants: 5

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:

rs397514647

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

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:

rs397514647

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

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:

rs397514647

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

GeneticVariation

UNIPROT

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

11835386

2002

dbSNP:

rs397514647

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.800

CausalMutation

CLINVAR

dbSNP:

rs119474039

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

25761052

2015

dbSNP:

rs113994022

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

Vanishing white matter disease in French-Canadian patients from Quebec.

25079571

2014

dbSNP:

rs113994024

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

CausalMutation

CLINVAR

dbSNP:

rs141988913

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C1858991
Disease:

Childhood Ataxia with Central Nervous System Hypomyelinization

0.700

GeneticVariation

CLINVAR

dbSNP:

rs113994022

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C2960129
Disease:

Vanishing white matter disease

0.020

GeneticVariation

BEFREE

The 260C>T (A87V) mutation in exon 3 of the EIF2B3 gene is likely a founder mutation for vanishing white matter disease in Quebec.

25079571

2014

dbSNP:

rs113994022

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C2960129
Disease:

Vanishing white matter disease

0.020

GeneticVariation

BEFREE

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.

23115207

2012

dbSNP:

rs141988913

Entrez Id:	8891
Gene Symbol:	EIF2B3

EIF2B3

CUI:	C2960129
Disease:

Vanishing white matter disease

0.010

GeneticVariation

BEFREE

This is the second report of adult-onset vanishing white matter disease due to mutations in EIF2B3 and the first report of the c.272G>A (p.Arg91His) missense mutation.

22312164

2012