ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: AICARDI-GOUTIERES SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.300 Biomarker disease CTD_human Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012