Disease: Hyperuricemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 GeneticVariation disease BEFREE Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. 28742244 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 GeneticVariation disease BEFREE On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including neurodevelopmental abnormalities. 20544509 2010
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.120 Biomarker disease HPO