×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
17510093
2007
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
Recessive GRHPR mutations cause primary hyperoxaluria type 2 (PH2 ).
30889567
2019
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GermlineCausalMutation
disease
ORPHANET
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
10484776
1999
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
14635115
2003
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
25644115
2015
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
BEFREE
These results further confirm that mutations in the GRHPR gene form the genetic basis of PH2 .
11030416
2000
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
24116921
2014
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
The case: A boy with recurrent stones.
18560364
2008
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?
11477177
2001
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Primary hyperoxaluria type 2 in children.
12185464
2002
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
CausalMutation
disease
CLINVAR
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
15327387
2004
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
0.800
GeneticVariation
disease
CLINVAR
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
24116921
2014
×
Entrez Id:
9380
Gene Symbol:
GRHPR
GRHPR
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