GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 Biomarker group BEFREE Although retinopathy has not been previously described in Sly syndrome, the ERG changes in this patient suggest that retinopathy may be a feature of MPS VII. 27648682 2017