. . . . . . . "[In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Gouti�res syndrome (AGS), an inherited inflammatory-mediated encephalopathy characterized by increased type I IFN activity and upregulation of IFN-stimulated genes (ISGs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:13:37+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .