EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: Congenital hypomyelinating neuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0393818
Disease:
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation BEFREE Mice homozygous for Egr2(I268N) develop a congenital hypomyelinating neuropathy similar to their human counterparts. 19244508 2009