DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Hypertrophic neuropathy of infancy ×

Gene: EGR2 ×

Results per page

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1959
Gene Symbol:	EGR2

EGR2

CUI:	C1408174
Disease:	Hypertrophic neuropathy of infancy

Hypertrophic neuropathy of infancy

0.200

Biomarker

MGD

Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.

19244508

2009

Entrez Id:	1959
Gene Symbol:	EGR2

EGR2

CUI:	C1408174
Disease:	Hypertrophic neuropathy of infancy

Hypertrophic neuropathy of infancy

0.200

Biomarker

MGD

Nab proteins are essential for peripheral nervous system myelination.

16136673

2005

Entrez Id:	1959
Gene Symbol:	EGR2

EGR2

CUI:	C1408174
Disease:	Hypertrophic neuropathy of infancy

Hypertrophic neuropathy of infancy

0.200

Biomarker

MGD

Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.

15695336

2005