ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: Acute encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		0.010 Biomarker disease BEFREE These findings illustrate a striking intrafamilial phenotypic variability in patients with AGS6 and describe the first case of a full recovery from an acute encephalopathy in an AGS patient. 29221912 2018