Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Phenotypic variation in leukoencephalopathy with vanishing white matter. 9710032 1998
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Vanishing white matter disease in a spanish population. 25089094 2014
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Vanishing white matter disease: a review with focus on its genetics. 16807905 2006
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859 2003
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Leukoencephalopathy with vanishing white matter: a review. 20838246 2010
dbSNP: rs113994053
rs113994053
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994055
rs113994055
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1847967
Disease:
OVARIOLEUKODYSTROPHY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1836830
Disease:
Developmental regression 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0948163
Disease:
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0023520
Disease:
Leukodystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0013421
Disease:
Dystonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994074
rs113994074
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1560108537
rs1560108537
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs28939717
rs28939717
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in vanishing white matter disease. 20975056 2010
dbSNP: rs28939717
rs28939717
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
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: rs28939717
rs28939717
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.800 CausalMutation CLINVAR Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. 21560189 2011
dbSNP: rs28939717
rs28939717
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
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
dbSNP: rs113994043
rs113994043
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121908541
rs121908541
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.700 CausalMutation CLINVAR
dbSNP: rs907041830
rs907041830
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C3887485
Disease:
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs907041830
rs907041830
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs907041830
rs907041830
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs28937596
rs28937596
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514646
rs397514646
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1064794256
rs1064794256
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.700 CausalMutation CLINVAR