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: rs757078088
rs757078088
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0393818
Disease:
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation BEFREE Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy. 31777123 2019
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
dbSNP: rs281865137
rs281865137
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0393818
Disease:
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation BEFREE Its mutation was a different amino acid substitution at codon 381 (Arg381His) which demonstrated congenital hypomyelinating neuropathy or early-onset CMT1. 11239949 2001