Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894426
rs104894426
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
dbSNP: rs104894426
rs104894426
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
dbSNP: rs104894426
rs104894426
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
dbSNP: rs104894426
rs104894426
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
dbSNP: rs104894426
rs104894426
EIF2B2
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
dbSNP: rs104894426
rs104894426
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