EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE ×
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: C4721436
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 22522483 2012
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4721436
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 9537424 1998
dbSNP: rs104894158
rs104894158
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C4721436
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR