Gene: PRPS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		0.120 GeneticVariation disease BEFREE Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. 28742244 2017
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		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
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		0.120 Biomarker disease HPO