GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VII ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1424546265
rs1424546265 		1.000 0.120 7 65982029 missense variant G/A snv 8.3E-06
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 13 1991 2003