Primary hyperoxaluria type 1 Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. (Orphanet Rare Disease Ontology, Orphanet_93598)
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1 genes/proteins associated with the disease Primary hyperoxaluria type 1 from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
AGXT alanine-glyoxylate aminotransferase 2.88009