Phosphoribosylpyrophosphate Synthetase Superactivity Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. (Orphanet Rare Disease Ontology, Orphanet_3222)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C567064
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Genes

1 genes/proteins associated with the disease Phosphoribosylpyrophosphate Synthetase Superactivity from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PRPS1 phosphoribosyl pyrophosphate synthetase 1 2.88009