Disease: Primary Hyperoxaluria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 GeneticVariation disease BEFREE In PH Type 1 (AGXT mutated), the most frequent and severe condition, patients typically progress to end-stage renal disease (ESRD); in PH Type 2 (GRHPR mutated), 20% of patients develop ESRD, while only one patient with PH Type 3 (HOGA1 mutated) has been reported with ESRD so far. 30169827 2019
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 CausalMutation disease CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921 2014
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 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: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 Biomarker disease MGD Hydroxyproline metabolism in mouse models of primary hyperoxaluria. 22189945 2012
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 Biomarker disease BEFREE Marked hyperoxaluria arises from mutations in 2 separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 (PH1) and 2 (PH2), respectively. 18951670 2008
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 Biomarker disease LHGDN A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 17510093 2007
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.640 Biomarker disease GENOMICS_ENGLAND