Disease: Childhood Ataxia with Central Nervous System Hypomyelinization ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
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: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
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: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
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: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
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: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425 2005
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR The effect of genotype on the natural history of eIF2B-related leukodystrophies. 15136673 2004
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. 15060152 2004
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.800 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859 2003
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
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
dbSNP: rs104894425
rs104894425
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758 2001