Primary hyperoxaluria type 2 Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. (Orphanet Rare Disease Ontology, Orphanet_93599)
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1 genes/proteins associated with the disease Primary hyperoxaluria type 2 from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
GRHPR glyoxylate reductase/hydroxypyruvate reductase 2.88009