Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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