Disease: Primary hyperoxaluria type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease BEFREE Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 19296982 2009
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease CLINVAR Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115 2003
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease BEFREE Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. 10484776 1999
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease BEFREE GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association. 24116921 2014
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease BEFREE Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 14635115 2003