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
0.020 Biomarker disease BEFREE Transplantation methods depend on the type of primary hyperoxaluria and on the particular patient, but combined liver and kidney transplantation is the method of choice in patients with primary hyperoxaluria type I and isolated kidney transplantation is the preferred method in those with primary hyperoxaluria type II. 22688746 2012
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I
0.020 GeneticVariation disease BEFREE Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis. 15327387 2004