DDX58, DExD/H-box helicase 58, 23586

N. diseases: 144; N. variants: 10
Disease: SINGLETON-MERTEN SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2 		0.410 GeneticVariation disease BEFREE G3BP1 activation of NFATc4 mapped to G3BP1 domains supporting interactions with RIG-I (retinoic acid inducible gene I), a stimulus for mitochondrial antiviral signaling (MAVS) that drives cardiovascular calcification in humans when mutated in Singleton-Merten syndrome (SGMRT2). 29626090 2018
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2 		0.410 GeneticVariation disease UNIPROT Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. 25620203 2015
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2 		0.410 CausalMutation disease CLINVAR