×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
CLINVAR
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
GENOMICS_ENGLAND
Cree leukoencephalopathy and CACH /VWM disease are allelic at the EIF2B5 locus.
12325082
2002
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
UNIPROT
Cree leukoencephalopathy and CACH /VWM disease are allelic at the EIF2B5 locus.
12325082
2002
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Cree leukoencephalopathy and CACH /VWM disease are allelic at the EIF2B5 locus.
12325082
2002
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
BEFREE
Cree leukoencephalopathy and CACH /VWM disease are allelic at the EIF2B5 locus.
12325082
2002
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
MGD
A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.
20826436
2010
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685
2014
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
BEFREE
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5 .
15136690
2004
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
UNIPROT
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
21484434
2011
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
MGD
Astrocytes are central in the pathomechanisms of vanishing white matter.
26974157
2016
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
22952606
2012
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
BEFREE
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH /VWM patients.
20958979
2010
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in vanishing white matter disease.
20975056
2010
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
BEFREE
Here we have established cell cultures from the brain of an individual with VWM carrying mutations in subunit 5 of eIF2B (encoded by EIF2B5 ).
15723074
2005
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
GENOMICS_ENGLAND
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
19158808
2009
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
UNIPROT
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
19158808
2009
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
UNIPROT
Identification of ten novel mutations in patients with eIF2B-related disorders.
15776425
2005
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
15060152
2004
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
GENOMICS_ENGLAND
Ovarian failure related to eukaryotic initiation factor 2B mutations.
12707859
2003
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
GeneticVariation
disease
UNIPROT
Ovarian failure related to eukaryotic initiation factor 2B mutations.
12707859
2003
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Ovarian failure related to eukaryotic initiation factor 2B mutations.
12707859
2003
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
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
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
Biomarker
disease
MGD
Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.
23056417
2012
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
21560189
2011
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.990
CausalMutation
disease
CLINVAR
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
11704758
2001