DDX58, DExD/H-box helicase 58, 23586

N. diseases: 144; N. variants: 10
Disease: Autoimmune Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204847
rs786204847
Entrez Id: 23586
Gene Symbol: DDX58
DDX58
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Mutations in RIG-I (C268F and E373A) lead to impaired ATPase activity, thereby driving hyperactive signaling associated with autoimmune diseases. 30560918 2018