DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.040 Biomarker disease BEFREE Geographic atrophy is a blinding form of age-related macular degeneration characterized by retinal pigmented epithelium (RPE) death; the RPE also exhibits DICER1 deficiency, resultant accumulation of endogenous Alu-retroelement RNA, and NLRP3-inflammasome activation. 29176737 2018
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.040 Biomarker disease BEFREE Development of GA has been linked to loss of the microRNA (miRNA)-processing enzyme DICER1 in the mature retinal pigmented epithelium (RPE). 28104803 2017
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.040 Biomarker disease BEFREE The RPE of human eyes with geographic atrophy accumulates toxic Alu RNA in response to a deficit in the enzyme DICER1, which in turn leads to activation of the NLRP3 inflammasome and elaboration of IL-18. 25349431 2014
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.040 AlteredExpression disease BEFREE Here we show that the microRNA (miRNA)-processing enzyme DICER1 is reduced in the RPE of humans with GA, and that conditional ablation of Dicer1, but not seven other miRNA-processing enzymes, induces RPE degeneration in mice. 21297615 2011