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