Gene: EIF2B5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Astrocytes are central in the pathomechanisms of vanishing white matter. 26974157 2016
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 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 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 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 Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature. 24938145 2014
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 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758 2001
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 GeneticVariation disease 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
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 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
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		0.990 Biomarker disease GENOMICS_ENGLAND Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758 2001
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 GeneticVariation disease CLINVAR
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 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 UNIPROT Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758 2001
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		0.990 GeneticVariation disease BEFREE Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. 16998732 2006
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		0.990 CausalMutation disease CLINVAR Genotype-phenotype correlation in vanishing white matter disease. 20975056 2010