Gene: EIF2B5 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 12325082

2002
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 12325082

2002
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 12325082

2002
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758

2001
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758

2001
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 11704758

2001
dbSNP: rs113994044
rs113994044
EIF2B5 ; LOC105374249
0.700 GeneticVariation UNIPROT

dbSNP: rs113994045
rs113994045
EIF2B5 ; LOC105374249
0.700 GeneticVariation UNIPROT

dbSNP: rs113994046
rs113994046
EIF2B5 ; LOC105374249
0.700 GeneticVariation UNIPROT

dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
0.700 GeneticVariation UNIPROT

dbSNP: rs113994050
rs113994050
EIF2B5
0.700 GeneticVariation UNIPROT

dbSNP: rs113994055
rs113994055
EIF2B5
0.700 GeneticVariation UNIPROT

dbSNP: rs113994057
rs113994057
EIF2B5
0.700 GeneticVariation UNIPROT