EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: Abnormality of the cranial nerves ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894159
rs104894159
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1854510
Disease:
Abnormality of the cranial nerves 		0.010 GeneticVariation BEFREE Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement. 11523566 2001