Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation 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
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation UNIPROT Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 12325082

2002
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.990 GeneticVariation UNIPROT Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758

2001
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.900 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.900 GeneticVariation UNIPROT In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy. 12707859

2003
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.900 GeneticVariation UNIPROT Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 11835386

2002
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. 22729508

2013
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. 22285377

2012
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
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
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy. 12707859

2003
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
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
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
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
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 11835386

2002