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 Recessive GRHPR mutations cause primary hyperoxaluria type 2 (PH2). 30889567 2019
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease BEFREE Although requiring confirmation in additional cases, the normalization of plasma oxalate, urine oxalate, and urine glycerate levels observed in this patient within a month of the transplant that remain reduced at the most recent follow-up at 13 months suggests that correction of the GRHPR deficiency in PH2 can be achieved by liver transplantation. 28681512 2018
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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115 2015
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921 2014
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921 2014
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 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 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 GeneticVariation disease CLINVAR A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 17510093 2007
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 Biomarker disease BEFREE Primary hyperoxaluria type 2 (PH2) is a rare monogenic disorder characterized by an elevated urinary excretion of oxalate. 16597637 2006
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
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. 15327387 2004
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation 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 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 GeneticVariation disease BEFREE 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 CausalMutation disease CLINVAR Primary hyperoxaluria type 2 in children. 12185464 2002
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 CausalMutation disease CLINVAR Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? 11477177 2001
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		0.800 GeneticVariation disease BEFREE Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. 11728965 2001
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 GeneticVariation disease CLINVAR Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). 11030416 2000
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