ZPBP2, zona pellucida binding protein 2, 124626

N. diseases: 20; N. variants: 23
Disease: Hyperuricemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.010 GeneticVariation disease BEFREE ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia. 21594610 2011