LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: AICARDI-GOUTIERES SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.010 GeneticVariation disease BEFREE Hypomorphic mutations in the DNA repair enzyme RNase H2 cause the neuroinflammatory autoimmune disorder Aicardi-Goutières syndrome (AGS). 29016854 2017