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 Biomarker disease BEFREE Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. 28569194 2017
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR The case: A boy with recurrent stones. 18560364 2008
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. 10484776 1999
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease BEFREE These results further confirm that mutations in the GRHPR gene form the genetic basis of PH2. 11030416 2000
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. 16306119 2005