Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Vanishing white matter disease in a spanish population. 25089094

2014
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Leukoencephalopathy with vanishing white matter: a review. 20838246

2010
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Vanishing white matter disease: a review with focus on its genetics. 16807905

2006
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Ovarian failure related to eukaryotic initiation factor 2B mutations. 12707859

2003
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Phenotypic variation in leukoencephalopathy with vanishing white matter. 9710032

1998