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
0.010 Biomarker disease BEFREE Our study provides the proof of concept that CRISPR/Cas9-mediated integration of an AGXT minigene into the AAVS1 safe harbour locus in patient-specific iPSCs is an efficient strategy to generate functionally corrected hepatocytes, which in the future may serve as a source for an autologous cell-based gene therapy for the treatment of PH1. 31402115 2019