ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.010 GeneticVariation disease BEFREE Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. 28139822 2016