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MIRAGE
purine-pyrimidine metabolic disorder

Summary
Synonym
  • inborn errors of purine-pyrimidine metabolism
Definition
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:653
UMLS
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
471 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
4860 PNP purine nucleoside phosphorylase
7372 UMPS uridine monophosphate synthetase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P31939 Bifunctional purine biosynthesis protein ATIC
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025