GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VII ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1434169374
rs1434169374
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease:
Mucopolysaccharidosis VII 		0.010 GeneticVariation BEFREE The low beta-glucuronidase activity in another mild MPS VII patient was due to reduced biosynthesis of stable mRNA from one allele, and a W446X mutation on the second. 9490302 1998