Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
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
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