DisGeNET - a database of gene-disease associations

EIF2B3, eukaryotic translation initiation factor 2B subunit gamma, 8891

N. diseases: 36; N. variants: 5

Disease: OVARIOLEUKODYSTROPHY ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1847967
Disease:	OVARIOLEUKODYSTROPHY

OVARIOLEUKODYSTROPHY

0.500

GermlineCausalMutation

disease

ORPHANET

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

2004

CUI:	C1847967
Disease:	OVARIOLEUKODYSTROPHY

OVARIOLEUKODYSTROPHY

0.500

Biomarker

disease

CTD_human