DDX58, DExD/H-box helicase 58, 23586

N. diseases: 144; N. variants: 10
Disease: SINGLETON-MERTEN SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. 25620203 2015