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 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 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 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 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 GermlineCausalMutation disease ORPHANET
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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
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 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 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 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 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 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 CTD_human
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 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 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 Biomarker disease GENOMICS_ENGLAND
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 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 GeneticVariation disease CLINVAR Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 24116921 2014