DisGeNET - a database of gene-disease associations

EIF2B2, eukaryotic translation initiation factor 2B subunit beta, 8892

N. diseases: 72; N. variants: 11

Disease: Vanishing white matter disease ×

Variant: rs397514648 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397514648

Entrez Id:	8892
Gene Symbol:	EIF2B2

EIF2B2

CUI:	C2960129
Disease:

Vanishing white matter disease

0.010

GeneticVariation

BEFREE

An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.

25031760

2014