HAO2, hydroxyacid oxidase 2, 51179

N. diseases: 22; N. variants: 0
Disease: Primary hyperoxaluria, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.050 Biomarker disease BEFREE CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I. 30575740 2018
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.050 Biomarker disease BEFREE Using genetically modified mice, we herein report GO as a safe and efficient target for substrate reduction therapy (SRT) in PH1. 26689264 2016
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.050 Biomarker disease BEFREE The indirect glycolate toxicity assay used in the present study has potential to be used in cell-based drug screening protocols to identify chemotherapeutics that might enhance or decrease the activity and metabolic effectiveness of AGT and GO, respectively, and be useful in the treatment of PH1. 26854734 2016
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.050 AlteredExpression disease BEFREE Our results support the use of DsiRNA to reduce liver GO levels as a potential therapeutic approach to treat PH1. 26758691 2016
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.050 GeneticVariation disease BEFREE Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. 24996905 2014