Disease: Vanishing white matter disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.040 GeneticVariation disease BEFREE The 260C>T (A87V) mutation in exon 3 of the EIF2B3 gene is likely a founder mutation for vanishing white matter disease in Quebec. 25079571 2014
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.040 GeneticVariation disease BEFREE A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation. 23115207 2012
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.040 GeneticVariation disease BEFREE This is the second report of adult-onset vanishing white matter disease due to mutations in EIF2B3 and the first report of the c.272G>A (p.Arg91His) missense mutation. 22312164 2012
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		0.040 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